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

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Matthew O'Conner presented at Undoing Aging earlier this year on the startup biotech company Underdog Pharmaceuticals. The company is spinning out of the SENS Research Foundation (SRF), based on research conducted by the scientific team there in recent years. The company is focused on a class of molecule known cyclodextrins, and have candidates capable of efficiently binding and sequestering 7-ketocholesterol. This form of oxidized cholesterol is of great importance to the progression of atherosclerosis, and possibly other age-related conditions as well. In the case of atherosclerosis, the presence of oxidized cholesterols...
Source: Fight Aging! - Category: Research Authors: Tags: Healthy Life Extension Community Source Type: blogs
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Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
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Source: Cell death and disease - Category: Internal Medicine Authors: Source Type: research
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Source: Micron - Category: Biology Source Type: research
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Source: Frontiers in Physiology - Category: Physiology Source Type: research
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Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
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Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research
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Source: Neuroscience Letters - Category: Neuroscience Source Type: research
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Source: Redox Biology - Category: Biology Source Type: research
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