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ND6基因中的线粒体DNA核苷酸变化C14482G和C14482A对Leber遗传性视神经病变具有致病性。

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

作者信息

Valentino Maria Lucia, Avoni Patrizia, Barboni Piero, Pallotti Francesco, Rengo Chiara, Torroni Antonio, Bellan Marzio, Baruzzi Agostino, Carelli Valerio

机构信息

Dipartimento di Scienze Neurologiche, Università di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.

出版信息

Ann Neurol. 2002 Jun;51(6):774-8. doi: 10.1002/ana.10193.

Abstract

A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber's hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.

摘要

在一个意大利家庭中,发现一种新型线粒体DNA核苷酸颠换,即C14482A(M64I),不同于先前报道的C14482G(M64I),它会导致伴有视力恢复的Leber遗传性视神经病变。这些等效变化是纯Leber遗传性视神经病变的第五种致病突变。这证实了复合体I的ND6基因是一个突变热点,并表明由C14482G或C14482A(M64I)以及常见的T14484C(M64V)突变诱导的第64位氨基酸的不同取代与视力恢复相关。

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