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Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease
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DOI：10.1016/j.mito.2026.102149.png)
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Abstract
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• 0c.1535G > A (p.R512Q) and c.1753C > T (p.R585W) in SDHA impair CII activity and assembly • Patient fibroblasts show reduced complex I activity and CI-containing supercomplexes. • Patient fibroblasts maintain basal respiration but exhibit reduced spare capacity. • Functional studies support pathogenicity and variant reclassification.
Keywords:
SDHA gene
Compound heterozygous mutations
Mitochondrial dysfunction
Neurological disorders
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