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<p>The mitochondrial m.3243&#xa0;A &gt; G variant is a prevalent mitochondrial disease mutation that causes multisystem maternal inheritance disorders. While clinical severity typically correlates with mutation load, symptom manifestation may be influenced by other variants and environmental factors. Notably, the m.3290T &gt; C variant has been hypothesized as a potential protective variant for m.3243&#xa0;A &gt; G pathogenicity, though clinical evidence remains limited. Here we reported a six-generation Chinese pedigree carrying both m.3243&#xa0;A &gt; G and homoplasmic m.3290T &gt; C variants. Clinical and genetic analyses revealed that carriers with extremely high m.3243&#xa0;A &gt; G heteroplasmy (&gt; 95%) exhibited severe symptoms, whereas those with moderate or high levels showed limited or no clinical symptoms. Our findings provide novel evidence for the protective role of m.3290T &gt; C in mitigating m.3243&#xa0;A &gt; G pathogenicity, highlighting its potential clinical significance.</p>

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The m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月13日

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  • Ning Zhang,
  • Zhikang Zhang,
  • Ying Zhang,
  • Xun Su,
  • Yuzhou Gao,
  • Jing Yang,
  • Weiwei Zou,
  • Yunxia Cao,
  • Dongmei Ji

摘要

The mitochondrial m.3243 A > G variant is a prevalent mitochondrial disease mutation that causes multisystem maternal inheritance disorders. While clinical severity typically correlates with mutation load, symptom manifestation may be influenced by other variants and environmental factors. Notably, the m.3290T > C variant has been hypothesized as a potential protective variant for m.3243 A > G pathogenicity, though clinical evidence remains limited. Here we reported a six-generation Chinese pedigree carrying both m.3243 A > G and homoplasmic m.3290T > C variants. Clinical and genetic analyses revealed that carriers with extremely high m.3243 A > G heteroplasmy (> 95%) exhibited severe symptoms, whereas those with moderate or high levels showed limited or no clinical symptoms. Our findings provide novel evidence for the protective role of m.3290T > C in mitigating m.3243 A > G pathogenicity, highlighting its potential clinical significance.