Mitochondrial Diagnoses From Skin Tests

Combining functional laboratory assays with genetic sequencing could help resolve uncertain findings and improve diagnosis of inherited mitochondrial disorders

October 27, 2026
2 min

The Pathologist

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Genomic sequencing is the recommended first-line investigation for suspected primary mitochondrial disease but yields a diagnosis in only 50% to 65% of cases.
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Researchers evaluated skin fibroblasts from 204 patients with genetically confirmed mitochondrial disease, 51 healthy controls, and 53 patients with other diagnoses.
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Combining enzyme activity, mitochondrial performance, and targeted protein assays detected mitochondrial dysfunction with 76% sensitivity and 93% specificity.
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The combined approach performed particularly well for disorders affecting respiratory chain complexes, mitochondrial protein production, and essential metabolic cofactors.
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Sensitivity was lower for some mitochondrial DNA disorders, especially those affecting DNA maintenance, so a normal fibroblast result cannot exclude mitochondrial disease.

Mitochondrial Diagnoses From Skin Tests

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Original Source(s)

Mitochondrial Diagnoses From Skin Tests

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