Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.
Address correspondence to: Janey L. Wiggs, Harvard Medical School, Massachusetts Eye and Ear, 243 Charles St., Boston, Massachusetts 02114, USA. Phone: 617.573.6440; Email: firstname.lastname@example.org.
Published March 15, 2021 - More info
Leber’s hereditary optic neuropathy (LHON) is the most common mitochondrial disease and in most cases is caused by mutations in mitochondrial DNA–encoded (mtDNA-encoded) respiratory complex I subunit ND1, ND4, or ND6. In this issue of the JCI, Stenton et al. describe biallelic mutations in a nuclear DNA–encoded gene, DNAJC30, establishing recessively inherited LHON (arLHON). Functional studies suggest that DNAJC30 is a protein chaperone required for exchange of damaged complex I subunits. Hallmark mtDNA LHON features were also found in arLHON, including incomplete penetrance, male predominance, and positive response to idebenone therapy. These results extend complex I–deficient phenotypes to include recessively inherited optic neuropathy, with important clinical implications for genetic counseling and therapeutic considerations.
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