[Immunologic deficiency, autoimmune disease and malignant lymphoma].
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Animals↗
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Results for “DEFICIENCY DISEASES”
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[Effect of hunger on the development of the child].
In a brief view there are described experimental results obtained from starving animals and teratogenous influences of the deficiency disease. By reference to a model group of 60 children there are depicted the complex influences of the deficiency disease and stresses of war. Two subgroups are described clinically, explaining the various pathogenesis. Children born under conditions of war and persecution or living under such conditions during childhood--41 persons. Children who after the war were born into families of previously persecuted people--19 persons. Neurotic conditions accompanied by anxiety, headache, disturbance of memory, tendency to fits, and excitability are common to both of these groups. The differences manifest themselves in the percentage of tiredness, sleeplessness, and depression, which occur much more frequently in the first group, while bodily weakness, ailments characterized by the occurrence of fits, perinatal encephalopathies with pyramidal disorders are more often observed in the second group. Lack of adaptability, especially in the first postwar years in the first group, could be remedied in the majority of cases, although it was possible here, too, to observe symptoms of premature senility. These cases showed not only hypertension (26.8 per cent), but also roentgenologically demonstrable arteriosclerotic changes. The higher percentage and statistically significant difference in the occurrence of anxiety and depression as compared with the percentage of neuroses in the average population as well as the frequent occurrence of perinatal encephalopathies and ailments characterized by fits show the serious degree to which the consequences of war still manifest themselves in children after many years.
Adolescent↗
Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
Pyruvate dehydrogenase phosphatase (PDP) is an enzyme which regulates the activity of the pyruvate dehydrogenase complex (PDHc). In the past, PDHc deficiency has been attributed to mutations in the complex itself and the regulatory enzymes have not been considered. We have recently reported the first mutation in PDP1, one of the two isoforms of PDP, which results in severe exercise intolerance and mild developmental delay in patients. This novel process of aberrant pyruvate metabolism opens up a new avenue for investigation into PDHc deficiency, that has hitherto been underappreciated.
Humans↗
Alpha(1)-antitrypsin deficiency, liver disease and emphysema.
alpha(1)-Antitrypsin is a member of the serine proteinase inhibitor (serpin) superfamily and a potent inhibitor of neutrophil elastase. The most important deficiency variant of alpha(1)-antitrypsin arises from the Z mutation (Glu342Lys). This mutation perturbs the protein's tertiary structure to promote a precise, sequential intermolecular linkage that results in polymer formation. These polymers accumulate within the endoplasmic reticulum of the hepatocyte forming inclusion bodies that are associated with neonatal hepatitis, juvenile cirrhosis and adult hepatocellular carcinoma. The resultant secretory defect leads to plasma deficiency of alpha(1)-antitrypsin. This exposes lung tissue to uncontrolled proteolytic attack from neutrophil elastase, culminating in alveolar destruction. Thus, the Z alpha(1)-antitrypsin homozygote is predisposed to developing early onset basal, panacinar emphysema. In this review, we summarise the current understanding of the pathobiology of alpha(1)-antitrypsin deficiency and the associated liver cirrhosis and emphysema. We show how this knowledge has led to the development of novel therapeutic approaches to treat this condition.
Hepatocytes↗
Functional dichotomy: glutathione and vitamin E in homeostasis relevant to primary open-angle glaucoma.
Primary open-angle glaucoma (POAG) is a complex chronic neurological disease that can result in blindness. The goal of understanding the aetiology of POAG is to be able to target effective treatment to individuals who will eventually go blind without it. Epidemiological studies of POAG have not specifically addressed the possibility that nutrition may play a role in the development of POAG. A handful of papers have considered that nutrition may have an impact on POAG patients. POAG is not believed to be a 'vitamin-deficiency disease'. The concept of 'vitamin-deficiency diseases' and the recommended daily allowances have not kept pace with the growing understanding of the cellular and molecular functions of vitamins and other micronutrients. The aetiology of POAG remains a mystery. Discoveries in cell physiology can be assimilated from the literature and applied to known homeostatic mechanisms of the eye. In this way the possible roles of nutritional components involved in the aetiology of POAG can be described. The mechanisms may be subject to many influences in ways that have yet to be defined. Two distinct changes in the trabecular meshwork can be identified: trabecular meshwork changes that cause intra-ocular pressure to increase and trabecular meshwork changes that are directly correlated to optic nerve atrophy. Compelling evidence suggests that collagen trabecular meshwork extracellular matrix (ECM) remodelling is correlated to increased intraocular pressure in POAG. Elastin trabecular meshwork ECM remodelling is correlated to POAG optic nerve atrophy. There appear to be two different pathways of ECM remodelling and apoptosis induction in POAG. The pathway for collagen remodelling and apoptosis induction seems to be exogenously influenced by water-soluble antioxidants, for example, glutathione. The pathway for elastin remodelling and apoptosis induction seems to be influenced by endogenous lipid-soluble antioxidants, for example, vitamin E. Roles can be defined for antioxidants in the two different pathways of ECM remodelling and apoptosis induction. This suggests that antioxidants are important in maintaining cellular homeostasis relevant to the aetiology of POAG.
Apoptosis↗
Peroxisomal protein targeting and identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes.
At least three different subcellular compartments, including peroxisomes, are involved in cholesterol synthesis. Recently, it has been demonstrated that peroxisomes contain a number of enzymes involved in cholesterol biogenesis that previously were considered to be cytosolic or located in the endoplasmic reticulum. Peroxisomes have been shown to contain acetoacetyl-CoA thiolase, HMG-CoA synthase, HMG-CoA reductase, mevalonate kinase, phosphomevalonate kinase, phosphomevalonate decarboxylase, isopentenyl diphosphate isomerase and FPP synthase. Moreover, the activities of these enzymes are also significantly decreased in liver tissue and fibroblast cells obtained from patients with peroxisomal deficiency diseases. In addition, the cholesterol biosynthetic capacity is severely impaired in cultured skin fibroblasts obtained from patients with peroxisomal deficiency diseases. These findings support the proposal that peroxisomes play an essential role in isoprenoid biosynthesis. This paper presents a review of peroxisomal protein targeting and of recent studies demonstrating the localization of cholesterol biosynthetic enzymes in peroxisomes and the identification of peroxisomal targeting signals in these proteins.
Amino Acid Sequence↗
[Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation].
Recently a number of defects of fatty acid transport and beta-oxidation have been described. Primary carnitine deficiency presents itself as muscle carnitine deficiency, systemic carnitine deficiency or a cardiomyopathic subtype. Another abnormality of fatty acid transport is due to inner carnitine palmitoyl transferase deficiency, usually associated with a myoglobinuric phenotype. Long chain, medium and short chain acyl-CoA-dehydrogenase defects are usually associated to Reye's syndrome, encephalopathy, organic aciduria and secondary carnitine deficiency.
Acyltransferases↗
Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP.
Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene were recently found to be associated with Alexander disease. We examined the functional effect of such mutations, and observed a decrease in GFAP dimerization. This effect behaves in a dominant fashion and points towards a potential mechanism in pathogenesis.
Alexander Disease↗
Alpha1-antitrypsin deficiency: liver disease associated with retention of a mutant secretory glycoprotein in the endoplasmic reticulum.
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Animals↗
[Clinical pre-laboratory diagnosis of immune deficiency in diseases of the vascular coating and retina].
The authors analyze the results of prelaboratory diagnosis of immunologic insufficiency in 948 patients with various clinical forms of endogenic uveitis and retinovasculitis; the diagnosis was based on the totality of clinical signs and ther combinations, summed up in a universal diagnostic chart developed at the Institute of Immunology of the RSFSR Ministry of Health. Immunologic insufficiency was diagnosed in 67.5 percent of uveitis patients mainly in the presence of infectious or autoimmune syndromes developing, as is well known, in depression of T cellular immunity. This is practically valuable for the development of pathogenetic treatment of these grave patients, whose multiple-modality treatment should include immunostimulants and immunomodulators.
Adolescent↗
Human immunoglobulin germline alpha(IgA) transcripts are expressed in vivo and their level correlates to class switching.
Immunoglobulin isotype switching is preceded by transcription of exons located 5' of the immunoglobulin switch regions. These exons are referred to as 'I-exons' and transcription of these regions is believed to be an essential step in switch recombination. Such mRNA species lack a variable portion and are denoted 'germline' transcripts. We have previously identified I-regions in man and we have now investigated the in vivo expression of human germline transcripts. Germline alpha transcripts (containing an I alpha exon) were expressed in various lymphoid organs, including peripheral blood mononuclear cells. Decreased levels of germline transcripts were found in immunoglobulin deficiency diseases. These findings are compatible with an in vivo role of germline transcription in isotype switching and may contribute to the understanding of mechanisms underlying deficiency diseases.
Agammaglobulinemia↗
alpha-1-Antitrypsin deficiency: associated diseases and their treatment.
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Adult↗
Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease).
Canavan disease (CD) is a rare leukodystrophy which is lethal in infancy or early childhood. The underlying biochemical abnormality in CD is a hereditary deficiency of N-aspartoacylase transmitted in an autosomal recessive fashion. We report on the ultrasound (US), CT, and MRI findings of three unrelated boys with biochemically confirmed CD. At 6 and 9 months of age, two CD patients with rapid neurological deterioration showed markedly enhanced acoustic attenuation of the white matter with the exception of the corpus callosum, giving the appearance of a reversed pattern of echogenicity of cortical gray and subcortical white matter. While gyri and sulci had an almost normal US appearance, the periventricular gray matter featured prominently with increased echogenicity. In contrast another CD patient with a more protracted course had ventricular enlargement when examined by US at 5 and 9 months but no alteration in white matter echogenicity. MRI showed impaired myelinization in all three patients with Canavan disease.
Canavan Disease↗
Elevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosis.
Clusterin (apolipoprotein J, SP-40,40), as well as apolipoprotein A-I (apo A-I) and apolipoprotein A-II (apo A-II), are apolipoprotein components of high density lipoprotein (HDL), but not of low density lipoprotein. In spite of the deficiencies of apo A-I, apo A-II and HDL in the sera of patients with Tangier disease, clusterin was found in them at normal level. While clusterin was present as the component of HDL with apo A-I in sera of normal donors, it was present as a protein which did not form a complex in sera of Tangier patients. SC5b-9 made from the sera of Tangier patients contained normal amounts of clusterin and was deficient in apo A-I, indicating that clusterin could be incorporated into the SC5b-9 complex without apo A-I. The complement activities of the sera of the patients were higher than those of normal donors. These results may be explained by the deficiencies of apo A-I, apo A-II and HDL in the patients, because they were suggested to be the inhibitors of the reactive haemolysis of complement. The elevated complement activities of the patients might be related to the severe atherosclerotic lesions in Tangier disease.
Adult↗
Basic defect in the expression of adenosine deaminase in ADA-SCID disease. II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids.
A specific competitive radioimmunoassay (RIA) was employed to quantify human adenosine deaminase molecules produced in human-Chinese hamster somatic cell hybrids. Studies on a set of hybrids in which the normal and aberrant expressions of adenosine deaminase (assigned earlier to human chromosome 20) were segregating, have demonstrated that in the patient with ADA-SCID disease reported by Herbschleb-Voogt et al. (1981 a), the deficiency of ADA activity was associated with a comparable deficiency of adenosine deaminase specific immuno-crossreacting material (ADA-CRM).
Adenosine Deaminase↗
Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z alpha 1-antitrypsin deficiency.
Conformational diseases are a class of disorders associated with aberrant protein accumulation in tissues and cellular compartments. Z alpha1-antitrypsin (A1AT) deficiency is a genetic disease associated with accumulation of misfolded A1AT in the endoplasmic reticulum (ER) of hepatocytes. We sought to identify intracellular events involved in the molecular pathogenesis of Z A1AT-induced liver disease using an in vitro model system of Z A1AT ER accumulation. We investigated ER stress signals induced by Z A1AT and demonstrated that both the ER overload response and the unfolded protein response were activated by mutant Z A1AT, but not wild-type M A1AT. Interestingly, activation of the unfolded protein response pathway required an additional insult, whereas NF-kappa B activation, a hallmark of the ER overload response, was constitutive. These findings have important implications for the design of future therapeutics for Z A1AT liver disease and may also impact on drug design for other conformational diseases.
Animals↗
[Zinc and vitamin A deficiency in diseases of the mouth mucosa].
The regeneration of the oral mucosa is zinc- and vitamin A-pathway dependent. Hyperkeratoses, a disturbed immune system and a higher incidence of oral malignancies have been reported in cases of deficiency. In this study, blood samples were taken from 97 patients with oral lichen planus, oral leukoplakia, oral squamous cell carcinoma (OSCC), and a control group. Besides routine blood analysis, serum levels of zinc (Zn), vitamin A (Vit A) and retinol binding protein (RBP) were identified. Mean values in lichen ruber planus were Zn 784 micrograms/l, RBP 5.26 mg/dl and Vit A 656 ng/ml; in leukoplakia Zn 696 micrograms/l, RBP 5.30 mg/dl and Vit A 652 ng/ml; and in OSCC Zn 659 micrograms/l, RBP 5.00 mg/dl and Vit A 617 ng/ml. Patients with lichen ruber planus showed no statistically significant differences, whereas in leukoplakia patients there were statistically lower values for Zn compared to the control group and the lichen ruber planus group (P < 0.05). Patients with oral malignancies showed lower serum levels for Zn, RBP and Vit A. Compared with the control group and the lichen ruber planus group, differences of the serum Zn levels proved to be statistically significant (P < 0.01). In patients with oral leukoplakia and patients with oral carcinoma and Zn deficiency, a substitutional therapy should be considered.
Adult↗
Small intestinal disease, folate deficiency anemia, and oral contraceptive agents.
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Adult↗