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PubMed1993

Ankyrin-binding activity of nervous system cell adhesion molecules expressed in adult brain.

A family of ankyrin-binding glycoproteins have been identified in adult rat brain that include alternatively spliced products of the same pre-mRNA. A composite sequence of ankyrin-binding glycoprotein (ABGP) shares 72% amino acid sequence identity with chicken neurofascin, a membrane-spanning neural cell adhesion molecule in the Ig super-family expressed in embryonic brain. ABGP polypeptides and ankyrin associate as pure proteins in a 1:1 molar stoichiometry at a site located in the predicted cytoplasmic domain. ABGP polypeptides are expressed late in postnatal development to approximately the same levels as ankyrin, and comprise a significant fraction of brain membrane proteins. Immunofluorescence studies have shown that ABGP polypeptides are co-localized with ankyrinB. Major differences in developmental expression have been reported for neurofascin in embryos compared with the late postnatal expression of ABGP, suggesting that ABGP and neurofascin represent products of gene duplication events that have subsequently evolved in parallel with distinct roles. Predicted cytoplasmic domains of rat ABGP and chicken neurofascin are nearly identical to each other and closely related to a group of nervous system cell adhesion molecules with variable extracellular domains, including L1, Nr-CAM and Ng-CAM of vertebrates, and neuroglian of Drosophila. A hypothesis to be evaluated is that ankyrin-binding activity is shared by all of these proteins.

Amino Acid Sequence↗

PubMed2000

The Bristol shared care glaucoma study: outcome at follow up at 2 years.

AIM: To examine the outcome of care for patients with glaucoma followed up by the hospital eye service compared with those followed up by community optometrists. METHODS: A randomised study with patients allocated to follow up by the hospital eye service or community optometrists was carried out in the former county of Avon in south west England. 403 patients with established or suspected primary open angle glaucoma attending Bristol Eye Hospital and meeting defined inclusion and exclusion criteria were studied. The mean number of missed points on visual field testing in the better eye (using a "better/worse" eye analysis) in each group were measured. The visual field was measured using the Henson semiautomated central field analyser (CFA 3000). Measurements were made by the research team on all patients at baseline before randomisation and again 2 years after randomisation. The mean number of missed points on visual field testing in the worse eye, mean intraocular pressure (mm Hg), and cup disc ratio using a "better/worse" eye analysis in each group at 2 years were also measured. Measurements were made by the research team on all patients at baseline before randomisation and again 2 years after randomisation. An analysis of covariance comparing method of follow up taking into account baseline measurements of outcome variables was carried out. Additional control was considered for age, sex, diagnostic group (glaucoma suspect/established primary open angle glaucoma), and treatment (any/none). RESULTS: From examination of patient notes, 2780 patients with established or suspected glaucoma were identified. Of these, 752 (27.1%) fulfilled the entry criteria. For hospital and community follow up group respectively, mean number of missed points on visual field testing at 2 year follow up for better eye was 7.9 points and 6.8 points; for the worse eye 20.2 points and 18.4 points. Similarly, intraocular pressure was 19.3 mm Hg and 19.3 mm Hg (better eye), and 19.1 mm Hg and 19.0 mm Hg (worse eye); cup disc ratio at 2 year follow up was 0.72 and 0.72 (better eye), and 0.74 and 0.74 for hospital and community follow up group respectively. No significant differences in any of the key visual variables were found between the two groups before or after adjusting for baseline values and age, sex, treatment, and type of glaucoma. CONCLUSIONS: It is feasible to set and run shared care schemes for a proportion of patients with suspected and established glaucoma using community optometrists. After 2 years (a relatively short time in the life of a patient with glaucoma), there were no marked or statistically significant differences in outcome between patients followed up in the hospital eye service or by community optometrists. Decisions to implement such schemes need to be based on careful consideration of the costs of such schemes and local circumstances, including geographical access and the current organisation of glaucoma care within the hospital eye service.

Age Distribution↗

PubMed1986

Combinatorial diversity in the generation of antibody molecules. The complete amino-acid sequence of the variable domain of a monoclonal anti-streptococcal group A polysaccharide antibody.

The first complete amino-acid sequence of the variable region of the gamma 3 heavy chain from a murine anti-streptococcal group A polysaccharide (A-CHO) immunoglobulin (monoclonal antibody 2S1.3) is described. Therefore, in conjunction with the previously published 2S1.3 light chain sequence, a V kappa 25 structure, the entire variable domain of this antibody has been determined. In addition, four partial amino-terminal heavy chain sequences of other antibodies with the same specificity are reported. These heavy chains share a high degree of homology with heavy chains from fructosan-binding murine myeloma proteins with the exception of those positions known to be encoded by the D (diversity) segment in germ line DNA. The light chains associated with the heavy chains reported here are products of the V kappa 25, V kappa 27, and J kappa 5 genes. Up to date three VH and four V kappa subgroups have been shown to contribute genetic material to the assembly of antibodies specific for the A-CHO. Unlike other experimental systems employing structurally completely resolved full antigens the antistreptococcal immune response uses V genes previously shown to be involved in the formation of antibodies with different specificities. This provides further experimental evidence for the physiological relevance of heavy/light chain association as a posttranscriptional diversification mechanism in the generation of the antibody repertoire in addition to those somatic diversifiers acting directly upon the genes encoding the variable regions of individual chains.

Amino Acid Sequence↗

PubMed1990

Epigenesis theory: a mathematical model relating causal concepts of pathogenesis in individuals to disease patterns in populations.

A mathematical modeling approach called epigenesis theory is presented which relates three aspects of pathogenesis to the population distribution of disease. The three aspects of pathogenesis involve how two or more measured variables interact. They are 1) whether the measured variables are related to the same causal action, 2) whether there is only one pathogenic process leading to disease, and 3) whether the measured variables contribute to the same pathogenic process. Epigenesis theory defines the following multivariable relations between two disease causes: 1) "Complementary" causes contribute different causal actions to the sole pathogenic process leading to disease. They have multiplicative relations. 2) "Separate process" causes contribute different causal actions to different pathogenic processes. They have the relations of simple independent action which are slightly less than additive. 3) "Intermediate" causes contribute different causal actions to the same pathogenic process in the presence of additional pathogenic processes where at most one of them may also participate. They have relations somewhere between multiplicative and simple independent actions. 4) "Cooperative-competitive" causes share the same causal action and act within the same pathogenic process. Their relations can change from greater than multiplicative to less than simple independent action at increasing dichotomization points of the measured variables. Epigenesis theory unifies the sufficient-component causes model and the simple independent action model and exceeds either model in the range of observations it can explain. It is most useful given directly causal measured variables and specific disease outcomes, but it will assist in etiologic investigations of nonspecific outcomes in which new disease classifications are proposed. While it is less useful given surveillance-type variables such as age or sex or outcomes resulting from numerous pathogenic processes such as death, it gains utility as more causal variables are entered into an analysis and as more cut points of continuous complementary, independent, or intermediate variables are distinguished.

Adult↗

PubMed1990

Cross-correlation analysis of inhibitory interactions in dorsal cochlear nucleus.

1. Cross-correlation analysis was used to study the organization of inhibitory connections between type II or type III units and type IV principal cells in cat dorsal cochlear nucleus (DCN). Pairs of units were isolated using two microelectrodes so that information about the distance over which connections are made could be analyzed. Data were obtained from 51 pairs consisting of a type II and a type IV unit and from 22 pairs consisting of a type III and a type IV unit. The analyses in this paper concentrate on type II-type IV pairs. 2. Inhibitory troughs (ITs) are observed in the cross-correlograms of type II-type IV pairs (21/51 cases). An IT is a transient decrease in discharge probability in the postsynaptic (type IV) unit immediately after spikes in the presynaptic unit (type II). The average latency to the start of ITs is 0.73 ms, and the troughs are asymmetric with a faster leading phase. Small excitatory peaks accompany the ITs in type II units, but these are probably secondary effects associated with the IT. ITs are consistent with a monosynaptic, inhibitory connection between type II and type IV units. A variety of evidence suggests that type II responses are recorded from vertical cells, an interneuron in the deep layer of the DCN that may be glycinergic. 3. The cross-correlograms of type III-type IV pairs are more complex and variable than those of type II-type IV pairs--ITs are seen in 4/22 cases, and peaks of correlation that are symmetrically located around the origin (central mound or CM) are seen in 4/22 cases; two cases have both an IT and a CM. CMs result from shared sources of input. Whereas type II-type IV correlogram features change primarily in amplitude as stimulus conditions change, correlogram features in some type III-type IV pairs change qualitatively with stimulus conditions; correlograms are flat for some stimuli and show ITs or CMs or mixtures of the two for others. This variability suggests that the circuitry associated with type III-type IV pairs is more complex than a monosynaptic connection, and further analysis of type III-type IV pairs was not done. 4. The strength of inhibition for an IT is measured as the area under the IT (effectiveness) and as effectiveness divided by the postsynaptic discharge rate (association index).(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗

PubMed1993

Use of transformation to construct antigenic hybrids of the class 1 outer membrane protein in Neisseria meningitidis.

The class 1 protein of Neisseria meningitidis is an important component of candidate outer membrane vaccines against meningococcal meningitis. This porin protein contains two variable regions which determine subtype specificity and provide binding sites for bactericidal monoclonal antibodies. To determine the contribution of each of these variable regions in the induction of bactericidal antibodies, a set of isogenic strains differing only in their class 1 epitopes was constructed. This was done by transformation of meningococcal strain H44/76 with cloned class 1 genes and selection of the desired epitope combinations in a colony blot with subtype-specific monoclonal antibodies. When used for the immunization of mice, outer membrane complexes induced bactericidal antibodies only against meningococcal strains sharing at least one of their class 1 epitopes. The results demonstrate that the P1.2 and P1.16 epitopes, normally located in the fourth exposed loop of the protein, efficiently induce bactericidal antibodies independently of the particular sequence in the first variable region. The P1.5 and P1.7 epitopes, normally located in the first exposed loop, were found to induce lower bactericidal titers. Hybrid class 1 outer membrane proteins were constructed by inserting oligonucleotides encoding the P1.7 and P1.16 epitopes into the porA gene. In this way, we obtained a set of strains which carry the P1.5 epitope in loop 1, P1.2 in loop 4, and P1.7 and P1.16 (separately or in combination) in either loop 5 or loop 6. The additional epitopes were found to be exposed at the cell surface. Outer membrane complexes from several of these strains were found to induce a bactericidal response in mice against the inserted epitopes. These results demonstrate that it is feasible to construct meningococcal strains carrying multivalent class 1 proteins in which multiple subtype-specific epitopes are present in different cell surface-exposed loops.

Amino Acid Sequence↗

PubMed2006

Detailed analysis of the variability of peptidylarginine deiminase type 4 in German patients with rheumatoid arthritis: a case-control study.

Peptidylarginine deiminase type 4 (PADI4) genotypes were shown to influence susceptibility to rheumatoid arthritis (RA) in the Japanese population. Such an association could not previously be confirmed in different European populations. In the present study, we analysed exons 2-4 of PADI4 in 102 German RA patients and 102 healthy individuals to study the influence of PADI4 variability on RA susceptibility by means of haplotype-specific DNA sequencing. Analyses of the influence of PADI4 and HLA-DRB1 genotypes on disease activity and on levels of anti-cyclic citrullinated peptide antibodies were performed. Comparing the frequencies of PADI4 haplotype 4 (padi4_89*G, padi4_90*T, padi4_92*G, padi4_94*T, padi4_104*C, padi4_95*G, padi4_96*T) (patients, 14.7%; controls, 7.8%; odds ratio = 2.0, 95% confidence interval = 1.1-3.8) and carriers of this haplotype (patients, 27.5%; controls, 13.7%; odds ratio = 2.4, 95% confidence interval = 1.2-4.8), a significant positive association of PADI4 haplotype 4 with RA could be demonstrated. Other PADI4 haplotypes did not differ significantly between patients and controls. Regarding the individual PADI4 variants, padi4_89 (A-->G), padi4_90 (C-->T), and padi4_94 (C-->T) were significantly associated with RA (patients, 49.5%; controls, 38.7%; odds ratio = 1.6, 95% confidence interval = 1.1-2.3). Considering novel PADI4 variants located in or near to exons 2, 3, and 4, no quantitative or qualitative differences between RA patients (8.8%) and healthy controls (10.8%) could be demonstrated. While the PADI4 genotype did not influence disease activity and the anti-cyclic citrullinated peptide antibody level, the presence of the HLA-DRB1 shared epitope was significantly associated with higher anti-cyclic citrullinated peptide antibody levels (P = 0.033). The results of this small case-control study support the hypothesis that variability of the PADI4 gene may influence susceptibility to RA in the German population. Quantitative or qualitative differences in previously undefined PADI4 variants between patients and controls could not be demonstrated.

Adolescent↗

PubMed2004

Molecular analysis of TCR clonotypes in LGL: a clonal model for polyclonal responses.

Large granular lymphocytic (LGL) leukemia is a clonal lymphoproliferative disorder of CTL associated with cytopenias resulting from an immune and cytokine attack on hemopoietic progenitor cells. Extreme clonality of CTL expansions seen in LGL leukemia makes it an ideal model to study the role of the T cell repertoire in other less-polarized immune-mediated disorders. Complementarity-determining region 3 (CDR3) of the TCR is a unique Ag-specific region that can serve as a molecular marker, or clonotype, of the disease-specific T cells. We studied the variable portion of the beta-chain spectrum in a cohort of LGL leukemia patients. The CDR3 sequences were determined for the immunodominant clones and used to design clonotype-specific primers. By direct and semi-nested amplification, clonotype amplicons were found to be shared by multiple patients and controls. Analysis of the generated sequences demonstrated that the original clonotypes are rarely encountered in normal control samples; however, high levels of homology were found in both controls and patients. Clonotypes derived from individual LGL patients can be used as tumor markers for the malignant clone. More generally, clonotypic analysis and comparison of the variable portion of the beta-chain CDR3-specific sequences from a large number of patients may lead to better subclassification of not only LGL but also other immune-mediated disorders.

Adult↗

PubMed2001

Shared bathing and drowning in infants and young children.

OBJECTIVE: A study was undertaken to look at possible risks of shared bathing in early childhood. METHODS: Autopsy databases were searched at the Women's and Children's Hospital and State Coroner's Office, Adelaide, Australia, from January 1963 to December 1999, the Victorian Institute of Forensic Medicine, Melbourne, Australia, from January 1991 to December 1999, and the Children's Hospital-San Diego, San Diego, USA, from January 1990 to December 1999, for all cases registered as drowning in children aged 2 years and under who were in a bath with another child around the time of death. RESULTS: A total of 17 cases were found. The age range of the victims was 8-22 months (average=11.8 months), with a male to female ratio of 10:7. The surviving children (who were all siblings) were significantly older, with an age range of 19-48 months (average=30.4 months), and a male to female ratio of 12:5. (The survivors were on average 18.5 months older than the victims, range=11-32 months). In every case the children had been left unsupervised for variable periods of time. CONCLUSIONS: These cases represented a significant component -- between 22 and 58% -- of bath drownings in the 2 years and under age group. It would appear that shared bathing for young children and infants may only acceptable if adult supervision is constant, and that a young sibling is not an appropriate person to look after an infant or toddler in the bath. While the risk of leaving an infant in a filled bath may be exacerbated if an older child is also present, further population-based studies are required to examine this hypothesis.

Age Distribution↗

PubMed2001

Large sharing of T-cell epitopes and natural ligands between HLA-B27 subtypes (B2702 and B2705) associated with spondyloarthritis.

HLA-B*2702 is an ankylosing spondylitis-associated allotype that differs from the more common B*2705 at residues 77, 80, and 81, in the peptide-binding site. The diversity and fine specificity of alloreactive cytolytic T-lymphocyte (CTL) raised against B*2702 were analyzed at the clonal level. Significant crossreaction with B*2705 and B*2709 indicated that the three subtypes share numerous T-cell epitopes. However, some epitopes shared by B*2702 and B*2705 were lost in B*2709, which correlates with weaker association of this subtype to disease. Clonal specificities were donor-dependent, indicating that allo-immunogenicity is variable among individuals. Anti-B*2702 CTL were little affected by single mutations mimicking B*2702/B*2705 polymorphism, but the double mutant at positions 77 and 81 was recognized worse than B*2705, suggesting a compensatory effect of residue 80. Thus, HLA-B27 polymorphism modulated alloreactivity through cooperative and compensatory effects on T-cell epitope structure. Comparison of B*2705- and B*2702-bound peptide repertoires revealed that they overlapped by 73% and 81%, respectively. This was larger than B*2702/B*2705 cross-reaction, indicating that HLA-B27 allospecificity is only partially determined by the nature of peptide repertoires. The large sharing of natural ligands and T-cell epitopes is consistent with a pathogenetic role of B*2702 and B*2705 in spondyloarthritis based on antigen presentation.

Antigen Presentation↗

PubMed2001

Sex-specific determinants of HIV infection among injection drug users in Montreal.

BACKGROUND: Sex-specific issues have not been extensively addressed in studies of HIV prevalence, despite the strong implications of differences between men and women in the risk of HIV transmission. The objective of this study was to examine sex-specific behaviours associated with HIV infection among injection drug users in Montreal. METHODS: A total of 2741 active drug users (2209 [80.6%] men) were recruited between 1988 and 1998. Information was sought on sociodemographic characteristics, drug-related behaviour and sexual behaviour, and participants were tested for HIV antibodies. Sex-specific independent predictors of HIV prevalence were assessed by stepwise logistic regression. RESULTS: The overall prevalence of HIV among study subjects was 11.1%; the prevalence was 12.0% among men and 7.5% among women. In multivariate models, a history of sharing syringes with a known seropositive partner (odds ratio [OR] for men 2.44, 95% confidence interval [CI] 1.72-3.46; OR for women 3.03, 95% CI 1.29-7.13) and of sharing syringes in the past 6 months (OR for men 0.61, 95% CI 0.44-0.85; OR for women 0.32, 95% CI 0.14-0.73) were independently associated with HIV infection. Other variables associated with HIV infection were homosexual or bisexual orientation, cocaine rather than heroin as drug of choice, frequency of injection drug use, and obtaining needles at a pharmacy or through needle exchange programs (for men only) and obtaining needles at shooting galleries and being out of treatment (for women only). INTERPRETATION: These results support the hypothesis that risk factors for HIV seropositivity differ between men and women. These sex-related differences should be taken into account in the development of preventive and clinical interventions.

Adolescent↗

PubMed2005

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.

BACKGROUND: In the congenital long-QT syndrome (LQTS), there can be a marked phenotypic heterogeneity. Founder effects, by which many individuals share a mutation identical by descent, represent a powerful tool to further understand the underlying mechanisms and to predict the natural history of mutation-associated effects. We are investigating one such founder effect, originating in South Africa in approximately ad 1700 and segregating the same KCNQ1 mutation (A341V). METHODS AND RESULTS: The study population involved 320 subjects, 166 mutation carriers (MCs) and 154 noncarriers. When not taking beta-blocker therapy, MCs had a wide range of QTc values (406 to 676 ms), and 12% of individuals had a normal QTc (< or =440 ms). A QTc >500 ms was associated with increased risk for cardiac events (OR=4.22; 95% CI, 1.12 to 15.80; P=0.033). We also found that MCs with a heart rate <73 bpm were at significantly lower risk (OR=0.23; 95% CI, 0.06 to 0.86; P=0.035). This study also unexpectedly determined that KCNQ1-A341V is associated with greater risk than that reported for large databases of LQT1 patients: A341V MCs are more symptomatic by age 40 years (79% versus 30%) and become symptomatic earlier (7+/-4 versus 13+/-9 years, both P<0.001). Accordingly, functional studies of KCNQ1-A341V in CHO cells stably expressing IKs were conducted and identified a dominant negative effect of the mutation on wild-type channels. CONCLUSIONS: KCNQ1-A341V is a mutation associated with an unusually severe phenotype, most likely caused by the dominant negative effect of the mutation. The availability of an extended kindred with a common mutation allowed us to identify heart rate, an autonomic marker, as a novel risk factor.

Cohort Studies↗

PubMed2005

Major histocompatibility genes in the Lake Tana African large barb species flock: evidence for complete partitioning of class II B, but not class I, genes among different species.

The 16 African 'large' barb fish species of Lake Tana inhabit different ecological niches, exploit different food webs and have different temporal and spatial spawning patterns within the lake. This unique fish species flock is thought to be the result of adaptive radiation within the past 5 million years. Previous analyses of major histocompatibility class II B exon 2 sequences in four Lake Tana African large barb species revealed that these sequences are indeed under selection. No sharing of class II B alleles was observed among the four Lake Tana African large barb species. In this study we analysed the class II B exon 2 sequences of seven additional Lake Tana African large barb species and African large barbs from the Blue Nile and its tributaries. In addition, the presence and variability of major histocompatibility complex class I UA exon 3 sequences in six Lake Tana and Blue Nile African large barb species was analysed. Phylogenetic lineages are maintained by purifying or neutral selection on non-peptide binding regions. Class II B intron 1 and exon 2 sequences were not shared among the different Lake Tana African large barb species or with the riverine barb species. In contrast, identical class I UA exon 3 sequences were found both in the lacustrine and riverine barb species. Our analyses demonstrate complete partitioning of class II B alleles among Lake Tana African large barb species. In contrast, class I alleles remain for the large part shared among species. These different modes of evolution probably reflect the unlinked nature of major histocompatibility genes in teleost fishes.

Alleles↗

PubMed1996

Children's sensitivity to syllables, onsets, rimes, and phonemes.

It has been argued that children's performance on phonological awareness tasks varies with the linguistic level that is tapped by the task. For example, tasks that involve syllables are thought to be easier than tasks that involve lower-level linguistic units, and tasks that tap the level of onsets are thought to be easier than tasks that require access to single phonemes. In previous research, however, the linguistic status of a unit has often been confounded with its size. Five experiments were carried out in an attempt to disentangle these variables and so to provide a better test of the linguistic status hypothesis. In the first study, preschoolers and kindergartners more readily judged that two stimuli shared a beginning sound when that sound was an onset on its own than when it was part of a cluster onset. In two additional experiments, there was an advantage for syllables over rimes in kindergarten and first-grade children when the shared units occurred in the middle syllables of trisyllabic stimuli. The superiority for syllables was largely masked in two other studies in which the stimuli that shared a unit rhymed. This latter result suggests that children's familiarity with rhyme can override the syllable advantage. Overall, the results support the linguistic status hypothesis by indicating that effects of linguistic level on phonological sensitivity cannot always be reduced to effects of unit size.

Child↗

PubMed2000

Comparison of Leaf Plastochron Index and Allometric Analyses of Tooth Development in Arabidopsis thaliana.

Two methods of analyses were used to investigate tooth development in serrate (se) mutant and wild-type Columbia-1 (Col-1) Arabidopsis thaliana leaves. There were almost twice as many teeth with deeper sinuses and two orders of toothing on the margins of serrate compared with Columbia-1 leaves. The main objective of this study was to test three hypotheses relative to the source of polymorphism in tooth development: (i) Teeth share similar growth rates and initial sizes, but the deeper teeth are initiated earlier in leaf development. (ii) Teeth share similar timing of initiation and growth rates, but the deeper teeth have a larger initial size. (iii) Teeth share similar timing of initiation and initial sizes, but the deeper teeth have a faster growth rate. Leaf plastochron index (LPI) was used as the time variable for leaf development. Results showed teeth in se were initiated at -27 LPI, 15 plastochrons earlier than those of Col-1. Serrate leaf expansion was biphasic, with the early phase expanding at half the relative plastochron rate of the later phase, which equaled the constant relative expansion rate of Col-1 leaves. Allometric analyses of tooth development obscured the interactions between time of tooth and leaf initiation and the early phase of leaf expansion characteristic of serrate leaves and teeth. Timing of developmental events that allometric analysis obscured can be readily detected with the LPI as a developmental index.

Journal Article↗

PubMed1984

Opportunities for health promotion: including the chronically ill and disabled.

One of the aims of health promotion and illness prevention is to reduce the prevalence of chronic disease that is so apparent in the developed countries, yet the very individuals who already have chronic diseases and disabling conditions constitute a sizeable population which could contribute to health promotion programs. There are two chief elements which argue for an extension of health promotion toward the chronically ill and disabled: (1) the lifestyle management which is characteristic of health promotion is similar in many respects to the comprehensive self-care regimens followed by chronically ill persons, and (2) the philosophy of independent living for disabled persons shares social foundations with the concept of health promotion and could add the strength of social advocacy to health promotion. This paper examines social and medical variables linking the two health trends of health promotion and independent living for disabled persons. Observations of a U.S. independent living program, The Timbers, are reported to illustrate an active combination of the two philosophies. Finally, sociological implications are presented, with a focus on the potential of health promotion programs.

Chronic Disease↗

PubMed1991

Modular organization of actin crosslinking proteins.

A family of actin-crosslinking proteins share a conserved 125 residue sequence that lies within a 250 residue actin-binding domain. This domain is combined with spacer segments consisting of a variable number of repeated alpha-helical or beta-sheet motifs and other functional domains, which generate proteins that differ in their ability to form actin bundles or networks and to associate with the plasma membrane. These functional domains are not in other actin-crosslinking proteins, one of which is elongation factor 1a (EF-1a) suggesting there are several pathways for the evolution of actin-crosslinking function.

Actinin↗

PubMedDate not supplied

Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.

Naxos disease is a recessive association of arrhythmogenic right ventricular cardiomyopathy (ARVC) with wooly hair and palmoplantar keratoderma or similar skin disorder. The clinical and histopathological spectrum of heart disease, molecular genetics and genotype-phenotype correlation are reviewed in 22 affected families with this cardiocutaneous syndrome reported in the literature from Greece, Italy, India, Ecuador, Israel and Turkey. All patients had the hair and skin phenotype from infancy and developed ARVC by adolescence. Mutations in genes encoding the cell adhesion proteins piakoglobin and desmoplakin that truncate the proteins at the C-terminal domains were identified to underlie this syndrome. A particular mutation in Ecuadorian families that truncates the intermediate filament-binding site of desmoplakin results in a variant of Naxos disease with predominantly left ventricular involvement, early morbidity and clinical overlapping with dilated cardiomyopathy (Carvajal syndrome). A lethal autosomal recessive cardiocutaneous syndrome of Poll Hereford calves has been reported in Australia sharing similarities with the human syndrome reviewed here with respect to hair and cardiac phenotype. The cardiomyopathy in Naxos cardiocutaneous syndromes presents with increased arrhythmogenicity and variable left ventricular involovement and is characterized histologically by myocardial loss with fibrofatty or fibrous replacement at subepicardial and mediomural layers. The clinical heterogeneity and tissue characteristics in this cell-adhesion cardiomyopathy might be mutation specific and leads to consideration that the spectrum of ARVC should be broadened.

Abnormalities, Multiple↗