Senataxin是酵母RNA解旋酶的直系同源物，在2型共济失调性眼肌失用症中发生突变。

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

作者信息

Moreira Maria-Céu, Klur Sandra, Watanabe Mitsunori, Németh Andrea H, Le Ber Isabelle, Moniz José-Carlos, Tranchant Christine, Aubourg Patrick, Tazir Meriem, Schöls Lüdger, Pandolfo Massimo, Schulz Jörg B, Pouget Jean, Calvas Patrick, Shizuka-Ikeda Masami, Shoji Mikio, Tanaka Makoto, Izatt Louise, Shaw Christopher E, M'Zahem Abderrahim, Dunne Eimear, Bomont Pascale, Benhassine Traki, Bouslam Naïma, Stevanin Giovanni, Brice Alexis, Guimarães João, Mendonça Pedro, Barbot Clara, Coutinho Paula, Sequeiros Jorge, Dürr Alexandra, Warter Jean-Marie, Koenig Michel

机构信息

IGBMC (Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, ULP) 67404 Illkirch, C.U. de Strasbourg, France.

出版信息

Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8.

DOI:10.1038/ng1303

PMID:14770181

Abstract

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.

摘要

共济失调性眼肌失用症2型（AOA2）最近被确定为一种新的常染色体隐性共济失调。我们现已在15个家族中鉴定出致病突变，这使我们能够根据发病年龄在10至22岁之间、小脑萎缩、轴索性感觉运动神经病、动眼神经失用症以及甲胎蛋白（AFP）升高，从临床上定义这一病症。15个突变中有10个导致一种大型DEAxQ框解旋酶过早终止，该酶是酵母Sen1p在人类中的同源物，参与RNA成熟和终止过程。