Mitochondrial tRNA(Leu(UUR)) C3275T, tRNA(Gln) T4363C and tRNA(Lys) A8343G mutations may be associated with PCOS and metabolic syndrome.

Mitochondrial tRNA(Leu(UUR)) C3275T, tRNA(Gln) T4363C and tRNA(Lys) A8343G mutations may be associated with PCOS and metabolic syndrome. Gene. 2017 Nov 16;: Authors: Ding Y, Xia BH, Zhang CJ, Zhuo GC Abstract Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS. A total of three matrilineal relatives exhibited MetS including obesity, high triglyceride (TG) and Hemoglobin A1c (HbA1c) levels, and hypertension. Whereas one patient from the third generation manifestated PCOS. Mutational analysis of the whole mitochondrial genes from the affected individuals identified a set of genetic variations belonging to East Asia haplogroup B4b1c. Among these variants, the homoplasmic C3275T mutation disrupted a highly evolutionary conserved base-pairing (28A-46C) on the variable region of tRNA(Leu(UUR)), whereas the T4363C mutation created a new base-pairing (31T-37A) in the anticodon...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research