Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

被引：1

作者：

Vela-Sebastian, Ana ^{[1
]}

Lopez-Gallardo, Ester ^{[1
,2
,3
]}

Emperador, Sonia ^{[1
,2
,3
]}

Hernandez-Ainsa, Carmen ^{[1
,2
,3
]}

Pacheu-Grau, David ^{[1
,2
,3
]}

Blanco, Ignacio ^{[4
]}

Ros, Andrea ^{[4
]}

Pascual-Benito, Ester ^{[5
]}

Rabaneda-Lombarte, Neus ^{[6
]}

Presas-Rodriguez, Silvia ^{[6
]}

Garcia-Robles, Pilar ^{[7
]}

Montoya, Julio ^{[1
,2
,3
]}

Ruiz-Pesini, Eduardo ^{[1
,2
,3
]}

机构：

[1] Univ Zaragoza, Dept Bioquim Biol Mol & Celular, Zaragoza 50013, Spain

[2] Inst Invest Sanitaria IIS Aragon, Zaragoza, Spain

[3] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain

[4] Hosp Badalona Germans Trias & Pujol, Serv Genet Clin, Barcelona, Spain

[5] Hosp Badalona Germans Trias & Pujol, Serv Oftalmol, Badalona, Spain

[6] Hosp Badalona Germans Trias & Pujol, Dept Neurociencias, Badalona, Spain

[7] Hosp Univ Virgen de las Nieves, Serv Oftalmol, Granada, Spain

来源：

CLINICAL GENETICS | 2022年 / 102卷 / 04期

关键词：

LHON; mtDNA; mutation; tRNA;

D O I：

10.1111/cge.14189

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA-encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.

引用

页码：339 / 344

页数：6

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