000134536 001__ 134536
000134536 005__ 20240424142035.0
000134536 0247_ $$2doi$$a10.1186/s13023-024-03165-2
000134536 0248_ $$2sideral$$a138192
000134536 037__ $$aART-2024-138192
000134536 041__ $$aeng
000134536 100__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia$$uUniversidad de Zaragoza
000134536 245__ $$aIdentification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
000134536 260__ $$c2024
000134536 5060_ $$aAccess copy available to the general public$$fUnrestricted
000134536 5203_ $$aBackground
Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify the penetrance of the classical pathologic mutations may also affect the phenotype of these other rare mutations.
Results
We describe a large family including 95 maternally related individuals, showing 30 patients with Leber hereditary optic neuropathy. The mutation responsible for the phenotype is a novel transition, m.3734A > G, in the mitochondrial gene encoding the ND1 subunit of respiratory complex I. Molecular-genetic, biochemical and cellular studies corroborate the pathogenicity of this genetic change.
Conclusions
With the study of this family, we confirm that, also for this very rare mutation, sex and age are important factors modifying penetrance. Moreover, this pedigree offers an excellent opportunity to search for other genetic or environmental factors that additionally contribute to modify penetrance.
000134536 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000134536 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000134536 700__ $$aHabbane, Mouna
000134536 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, Ester$$uUniversidad de Zaragoza
000134536 700__ $$adel Rio, Alejandro
000134536 700__ $$aLlobet, Laura
000134536 700__ $$aMateo, Javier
000134536 700__ $$aSanz-López, Ana María
000134536 700__ $$aFernández-García, María José
000134536 700__ $$aSánchez-Tocino, Hortensia
000134536 700__ $$aBenbunan-Ferreiro, Sol
000134536 700__ $$aCalabuig-Goena, María
000134536 700__ $$aNarvaez-Palazón, Carlos
000134536 700__ $$aFernández-Vega, Beatriz
000134536 700__ $$aGonzález-Iglesias, Hector
000134536 700__ $$aUrreizti, Roser
000134536 700__ $$aArtuch, Rafael
000134536 700__ $$0(orcid)0000-0003-2645-3983$$aPacheu-Grau, David$$uUniversidad de Zaragoza
000134536 700__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, Pilar$$uUniversidad de Zaragoza
000134536 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza
000134536 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza
000134536 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000134536 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000134536 773__ $$g19, 1 (2024), 148 [10 pp.]$$pOrphanet j. rare dis.$$tOrphanet Journal of Rare Diseases$$x1750-1172
000134536 8564_ $$s1307358$$uhttps://zaguan.unizar.es/record/134536/files/texto_completo.pdf$$yVersión publicada
000134536 8564_ $$s2267121$$uhttps://zaguan.unizar.es/record/134536/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000134536 909CO $$ooai:zaguan.unizar.es:134536$$particulos$$pdriver
000134536 951__ $$a2024-04-24-13:23:05
000134536 980__ $$aARTICLE