Personalized and Precision Medicine Journal

Abstract Metachromatic leukodystrophyis a kind of lysosomal storage disorder caused by a deficiency in the ARSA enzyme, which is involved in the metabolism of membrane sulfatides into galactosylceramide. ARSA gene mutation analysis is likely to be in increasing demand for the accurate detection of heterozygous carriers and for prenatal diagnosis in families with a metachromatic leukodystrophy proband. This study examined the sequence of the ARSA gene in 7 patients with metachromatic leukodystrophy by exon Sanger sequencing. Eleven mutations were found in the ARSA gene. It was further found that five mutations were probably damaging to the protein activity with a high score and specificity. The results pave the way to a more effective method for career detection , genetic diagnosis, and the counseling of Iranian patients with MLD disorder.
 

Abstract PAI-1 has become recognized as a central molecule linking pathogenesis and progression of thrombotic vascular events, including stroke. Clinical and experimental studies show that PAI-1 deficiencies cause accelerated fibrinolysis and bleeding, whereas elevated PAI-1 plasma levels are associated with vascular thrombosis. Raised PAI1 plasma levels are related to a 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter of the PAI1 gene. The 4G allele is associated with higher plasma PAI1 transcription and activity. In the current study, the association of higher PAI-1 plasma levels and the prevalence of the 4G/5G polymorphism in the PAI-1 gene promoter region in young patients with stroke were explored. Significantly, higher PAI-1 levels were observed in patients when compared to controls (p =002). The 4G/5G polymorphisms were significantly associated with increased PAI-1 levels, with the variant homozygous 4G/4G corresponding to mean values in patients versus controls.

Abstract Spermatogenesis is a very complex process that can be affected by a number of factors which may lead to reduced fertility or infertility. Busulfan kills spermatogonia stem cells and disrupts the connections between Sertoli and spermatogonia cells at base layers. Moreover, vitamin D is very important in the reproductive system of men. In this study, the effect of vitamin D on biosulfur-induced azoospermia in mice was investigated. The results showed an increase in the quality of sperm parameters in the group treated with vitamin D.