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PubMed2004

The clinical relevance of new insights in iron transport and metabolism.

There have been major basic advances in the field of iron metabolism in recent years. These advances include the discoveries of the HFE-1 gene, a series of transmembrane iron transporters or cotransporters (eg, divalent metal transporter-1, duodenal cytochrome b, ferroportin-1, hephaestin, and transferrin receptor-2), and two key regulatory proteins named hepcidin and hemojuvelin. Several mutations of these various proteins have been linked to human diseases. These discoveries have led to major improvements in our understanding of iron physiology and have also profoundly modified and extended the pathologic iron field. Clinical applications have rapidly emerged with the appearance of new iron overload syndromes and the practical input of new genetic tools enabling the noninvasive diagnosis of HFE-1 hemochromatosis. These basic advances are paving the road for innovative therapeutic strategies not only in iron overload syndromes but also in the wide area of chronic disease-related anemia.

Antimicrobial Cationic Peptides↗
PubMed2006

Novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context.

OBJECTIVE: To develop novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context. METHODS: In the proposed strategies, we define four relevancy criteria for mapping SNP-phenotype relationships-point-wise IBD mean difference, averaged IBD difference for window, Z curve and averaged slope for window. RESULTS: Application of these criteria and permutation test to 100 simulated replicates for two hypothetical American populations to extract the relevant SNPs for alcoholism based on sib-pair IBD profiles of pedigrees demonstrates that the proposed strategies have successfully identified most of the simulated true loci. CONCLUSION: The data mining practice implies that IBD statistic and genomic context could be used as the informatics for locating the underlying genes for complex human diseases. Compared with the classical Haseman-Elston sib-pair regression method, the proposed strategies are more efficient for large-scale genomic mining.

Alcoholism↗
PubMed2005

[The genetic determinism of polygenic diseases].

Progress in molecular biology has opened the way to identifying genes involved in predisposition to multigene diseases. The two methods currently used for this purpose--analysis of candidate genes and systematic genomic screening--have given interesting but only very partial results. The problem is complicated by the large number of genes involved, their low penetrance, and linkage disequilibrium.

Autoimmune Diseases↗
PubMed2006

[Increasing menace of cardiovascular diseases in the era of obesity].

Epidemiological reports show that about half of all adults suffer from hypertension, and the incidence of diabetes mellitus, dyslipidemia and obesity is markedly increasing in Japan. Recent progress in gene determination has shown that lifestyle-related diseases, including hypertension, are multigenetic diseases. In particular, renin-angiotensin genes play an important role in the pathogenesis of hypertension. Upregulation of the transcription of angiotensinogen and angiotensin-converting enzyme genes increases blood pressure and cardiovascular organ damage through increased levels of angiotensin II. In this review, I first introduce the history of the recognition, understanding and the development of treatment for hypertension. Secondly, the basic relationship of the pathogenesis between hypertension and the new concept of metabolic syndrome will be shown, and the usefulness of angiotensin II receptor antagonist for hypertensive patients with obesity and/or metabolic syndrome. Finally, I will reveal the utility of gene diagnosis for acute myocardial infarction and cerebral infarction by detecting the polymorphism of renin-angiotensin genes. On the other hand, the positive correlation between blood pressure and body mass index is affected by the Gln27Glu genotype of the beta2-adrenoceptor gene. These studies investigating the gene-environmental relationship will contribute to the development of tailor-made medicine in the future.

Adiponectin↗
PubMed2005

Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait.

We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. Of 7739 live and still births born over this period, 97 babies had major congenital malformations (12.5/1000 births): 49 (50.6%) babies had multiple system malformations, while 48 (49.4%) had single system anomalies. Of the 49 babies with multiple malformations, 21 (42.8%) had recognized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. Isolated systems anomalies included central nervous system (12 cases), cardiovascular system (9 cases), skeletal system (7 cases) and gastrointestinal system (6 cases). Of the parents, 68% were consanguineous. Genetic factors were implicated in 79% of cases. Genetic services need to be provided as an effective means for the prevention of these disorders.

Arabs↗