Dilated cardiomyopathy (DCM), one of the most common types of cardiomyopathies has a heterogeneous nature and can be seen in Mendelian forms. Next Generation Sequencing is a powerful tool for identifying novel variants in monogenic disorders. We used whole-exome sequencing (WES) and Sanger sequencing techniques to identify the causative mutation of DCM in an Iranian pedigree. We found a novel variant in the GATA6 gene, leading to substituting Histidine by Tyrosine at position 329, observed in all affected family members in the pedigree, whereas it was not established in any of the unaffected ones. We hypothesized that the H329Y mutation may be causative for the familial pattern of DCM in this family. The predicted models of GATA6 and H329Y showed the high quality according to PROCHECK and ERRAT. Nonetheless, simulation results revealed that the protein stability decreased after mutation, while the flexibility may have been increased. Hence, the mutation led to the increased compactness of GATA6. Overall, these data indicated that the mutation could affect the protein structure, which may be related to the functional impairment of GATA6 upon H329Y mutation, likewise their involvement in pathologies. Further functional investigations would help elucidating the exact mechanism.
Background: Polycystic ovarian syndrome is a complicated hereditary disorder which does not have specific reason and 6-10% of women at fertility age are involved. In other word we can say that this syndrome is a familial hereditary syndrome which developed with combination of environmental and genetic factors. Polycystic ovarian syndrome (PCOS) is related to cardiovascular diseases and has psychological and neurological effects on life quality as well as uterine and breast cancers. The main criteria for diagnosis of polycystic ovarian syndrome are chronic anovulation and hyperandogenism and the sub-criteria are insulin resistance, hirsutism and obesity onset at menarche age, anovulation alternatively is associated with increased testosterone level and DHEA-S. The cause of polycystic ovarian syndrome (PCO) is unknown, but it could be the result of complex genetic factors which are evident at puberty onset, also hereditary and non-hereditary factors could be the cause of polycystic ovarian syndrome (PCO) pheno ype. In many women with polycystic ovarian syndrome, the insulin level is high. It seems that high levels of insulin increase androgens production. High levels of androgens can cause acne, supernumerary hair growth, weight gain, and ovulation problem.Conclusion: Early diagnosis and treatment of polycystic ovarian syndrome could help to reduce long-term complications such as diabetes type II, high blood pressure, heart disease and stroke.
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