Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load

    August 2006 in “ Molecular genetics and metabolism ”
    Gregory M. Enns, Renkui Bai, Anita Beck, Lee‐Jun C. Wong
    TLDR Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
    The study examined a family with the T8993G mitochondrial DNA mutation, which is linked to Leigh syndrome (LS) and neurogenic muscle weakness, ataxia, retinitis pigmentosa (NARP). Two brothers exhibited high mutant loads (>90%) in all tissues, consistent with severe disease. Their sister, who had milder symptoms, showed high mutant loads in endoderm and mesoderm-derived tissues but significantly lower loads in ectoderm-derived hair bulbs. This variability in tissue mutant load complicates genetic counseling and prenatal diagnosis. The findings suggested that hair bulb mtDNA analysis could help understand genotype-phenotype correlations in asymptomatic or mildly symptomatic individuals with high blood mutant loads.
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