A novel mutation in the mitochondrial MTND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues

We report the case of two members of the same family with a novel mitochondrial DNA (mtDNA) gene variant in the MTND5 gene associated with MELAS syndrome and discuss limitations of genetics studies. The m.13045A>G mutation was detected at very low load in the daughter’s urine cells (5%) and at different levels in the skeletal muscle of both mother (50%) and daughter (84%), being absent in blood, hair and saliva.Our findings suggest that non-invasive genetic assessment in urine cells may not be a sensitive diagnostic method neither a good predictor of disease development in relatives of some families with mtDNA-associated MELAS, particularly if involving MTND5 gene.
Source: Mitochondrion - Category: Biochemistry Source Type: research