Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome

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• 作者：Lidia Carreñ ; o-Gago^a ; ^b ; Josep Gamez^d ; Yolanda Cá ; mara^a ; ^b ; Elena Alvarez de la Campa^c ; Juan Sebastian Aller-Alvarez^d ; Dulce Moncho^e ; Maria Salvado^d ; Alicia Galan^f ; Xavier de la Cruz^c ; ^g ; Tomà ; s Pinó ; s^a ; ^b ; ¹ ; Elena Garc&iacute ; a-Arum&iacute ; ^a ; ^b ; ^h ; ¹ ; ^{elena.garcia@vhir.org}
• 关键词：Novel mutation ; mtDNA ; MT-ND1 ; LHON syndrome ; Cybrids
• 刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：1863
• 期：1
• 页码：182-187
• 全文大小：654 K
• 卷排序：1863

文摘

A novel mutation in the MT-ND1 gene (m.3634A>G) in a patient with LHON syndrome. The mutation affected a conserved nucleotide and amino acid. Pathogenic mutation in the same amino acid was previously reported in a LHON patient. The mutation is not recorded in the Mitomap or Human Mitochondrial Genome Database. m.3634A>G cybrids showed OXPHOS system impairment (CI activity, cell proliferation).