Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal...

Area of Science:

• Genetics
• Neurology
• Nephrology

Background:

• Leber hereditary optic neuropathy (LHON) is a common mitochondrial disease, rarely associated with renal disease.
• Three unrelated patients with adult-onset renal failure presented with LHON.
• These patients were found to have a heteroplasmic mitochondrial DNA mutation, m.13513G>A.

Purpose of the Study:

• To report three cases of LHON associated with adult-onset renal failure.
• To identify the underlying genetic cause in these patients.
• To expand the known clinical spectrum of the m.13513G>A mitochondrial DNA mutation.

Main Methods:

• Retrospective chart review of three patients.
• Genetic analysis to identify mitochondrial DNA mutations.
• Review of clinical presentations, renal biopsy findings, and treatment outcomes.

Main Results:

• All three patients presented with bilateral optic neuropathy and chronic renal failure.
• A heteroplasmic m.13513G>A mutation in the MT-ND5 gene was identified in all patients.
• Clinical presentations included varied renal pathologies and, in one case, hearing loss; mild visual improvement was noted with treatments like idebenone or supplements.

Conclusions:

• The m.13513G>A mutation is associated with both bilateral optic neuropathy and adult-onset renal disease.
• Broad mitochondrial testing is recommended for patients with bilateral optic neuropathy due to clinical and genetic variability.
• These cases highlight the diagnostic challenges posed by mitochondrial diseases.