research Mitochondrial dysfunction as a cause of ageing
This review discusses the role of mitochondrial dysfunction in the ageing process and reports that its significance compared to other factors in mammalian ageing remains uncertain.
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5 / 1000+ resultsresearch Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
research The legacy of Bruce Ames and mitochondrial DNA mutagenicity: integrating oxidative stress, aging, and modern perspectives
This source critically examines Bruce Ames's influential contributions to biochemistry, particularly his theories on oxidative stress and mitochondrial DNA damage in aging, while acknowledging current challenges to his work and highlighting his lasting impact on the fields of mutagen screening and public health.
research Myotonic Dystrophy—A Progeroid Disease?
This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
research Abstracts
Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
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