ESPE Abstracts

A Chinese family of Han with symptoms of matrilineally-inherited obesity was assessed and its clinical, genetic, and molecular profiling was conducted. Obesity was observed in matrilineal relatives (3 out of 14) of a single generation (of 3 alive generations) of this family. On pedigree analysis and sequencing of their mitochondrial DNA, a novel homoplasmic mutation of the mitochondrial tRNAThr gene (15894G>A) was identified in these individuals. This mutation c...

In this study, we conducted a clinical, genetic, and molecular profiling of a Han Chinese family with evident of matrilineally-inherited obesity. Obesity was evident in 2/6 matrilineal relatives in a single generation of this family (of 3 available generations). When the mitochondrial DNA of these individuals was sequences and a pedigree analysis was performed, we were able to identify a novel homoplasmic mutation of the mitochondrial tRNAGly gene (10029A>G) in t...