25 citations
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May 2004 in “Prenatal Diagnosis” This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.
August 2023 in “Frontiers in Endocrinology” This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.
12 citations
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January 2002 in “Environmental and Molecular Mutagenesis” This study found that long-term smoking was associated with increased mitochondrial DNA deletions in hair follicles, especially among smokers with low plasma glutathione S-transferase activity.
35 citations
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August 2006 in “Molecular genetics and metabolism” 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.
March 2024 in “International journal of molecular sciences” This review summarizes current literature associating mitochondrial dysfunction with dermatologic issues like skin aging, hair loss, and poor wound healing, noting potential benefits in targeting mitochondrial components for treatments.