Well Referenced

Tag: mitochondrial disorders

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

This 2011 multicenter, double-blind, randomized, placebo-controlled trial evaluated the efficacy and safety of idebenone (900 mg/day) over 24 weeks in 85 patients with Leber’s hereditary optic neuropathy (LHON) carrying the m.3460G>A, m.11778G>A, or m.14484T>C mitochondrial DNA mutations. The primary endpoint—best recovery in visual acuity—did not reach statistical significance in the

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June 26, 2025 No Comments

Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status

The observational study titled “Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status” (PLoS One, 2014, PMID: 24941115) investigated redox imbalance in 58 patients with mitochondrial diseases compared to 59 healthy controls by measuring reduced (GSH) and oxidized (GSSG) glutathione levels. The study

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June 26, 2025 No Comments

Primary Mitochondrial Disorders Overview

Primary mitochondrial disorders, as detailed in this GeneReview, encompass genetic conditions affecting the mitochondrial respiratory chain due to mtDNA and nDNA mutations. These mutations disrupt aerobic metabolism, resulting in diverse clinical symptoms like myopathy, neuropathy, cardiomyopathy, and diabetes. Inheritance patterns and heteroplasmy thresholds are critical for understanding symptom presentation. The

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June 26, 2025 No Comments

Biomarkers of mitochondrial disorders

This systematic review evaluates mitochondrial biomarkers, highlighting GDF-15 and FGF-21 as the most promising candidates for diagnosing and managing mitochondrial disorders. Although these biomarkers demonstrate potential, their reliability varies across conditions, underscoring the need for further validation. Improved biomarker validation would enable earlier detection, better disease monitoring, and more precise

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June 26, 2025 No Comments