Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial <scp>DNA</scp>-Encoded Respiratory Complex I Subunits

Bayona-Bafaluy, Pilar (Universidad de Zaragoza) ; Sanz-Pons, Javier (Universidad de Zaragoza) ; Esteban, Olivia ; Bueno-Borghi, Luca ; Ruiz-Pesini, Eduardo (Universidad de Zaragoza)

Resumen: An in‐depth analysis of susceptibility factors modifying the penetrance of rare Leber hereditary optic neuropathy‐causing mutations in respiratory complex I genes encoded in mitochondrial deoxyribonucleic acid has not been performed. To bridge this gap, we conducted a review of the literature on rare mutations associated with LHON, selected those with substantial evidence of pathogenicity, and performed an in‐depth analysis of the various pedigrees. Examining the influences that modify the penetrance of the classical mutations associated with this disease may offer insights into susceptibility factors in individuals carrying the rare mutations.

Idioma: Inglés

DOI: 10.1111/cge.14683

Año: 2024

Publicado en: Clinical genetics 107, 5 (2024), 505-510
ISSN: 0009-9163

Factor impacto JCR: 2.3 (2024)

Categ. JCR: GENETICS & HEREDITY rank: 105 / 191 = 0.55 (2024) - Q3 - T2

Factor impacto SCIMAGO: 1.093 - Genetics (clinical) (Q2) - Genetics (Q2)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B33-23R
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229

Tipo y forma: Article (Published version)

Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)