Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome.
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DOI: 10.1016/j.gene.2017.11.049
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… read more here.
Keywords: pcos; trnaleu uur; metabolic syndrome; mutation ... See more keywords
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families
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DOI: 10.1016/j.jns.2019.116562
Abstract: The m.3243A > G mutation in the mitochondrial tRNALeu (UUR) gene is associated with a variety of phenotypic heterogeneity. The clinical spectrum and phenotypic-genotypic correlations in the Chinese patients are poorly understood. In the present study, we… read more here.
Keywords: mutation; mitochondrial trnaleu; seven han; trnaleu uur ... See more keywords