肌萎缩侧索硬化症的致病基因
肌萎缩侧索硬化症起因于运动大脑皮质与脊髓的某些神经死亡。这些神经控制着随意肌（voluntary muscles）以及身体行动的能力。当这些神经死亡时，人可能会变的虚弱甚至瘫痪。
肌萎缩侧索硬化症每年造成10,000名美国人死亡，据估计发病率为2,000分之一。前有几种药物可以用来减轻ALS的症状，但是ALS是一种无法痊愈的疾病，目前病因未明。
美国约翰霍浦金斯大学的科学家，第一次试着从基因组来寻找肌萎缩侧索硬化症的致病基因。
研究人员表示，他们在276名无血缘关系的肌萎缩侧索硬化症患者中，辨认出34个新的基因变异。这34个所谓的单一核苷酸多型性，这些基因有助于预测哪些人，可能发生这种非遗传性的致命性神经退化性疾病。
虽然研究人员目前还未找出负责肌萎缩侧索硬化症的确切基因，但是这项结果将可以缩小研究的范围。这项研究结果发表于Lancet Neurology网络版中。
(资料来源 : Bio.com)
部分英文原文：
The Lancet Neurology
Volume 6, Issue 4 , April 2007, Pages 322-328
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
Jennifer C Schymick BSa, m, Sonja W Scholz MDb, g, Hon-Chung Fung MDa, e, Angela Britton MSb, Sampath Arepalli MSa, J Raphael Gibbs BSc, f, Federica Lombardo PhDh, Mar Matarin PhDb, Dalia Kasperaviciute PhDf, Dena G Hernandez MScb, Cynthia Crewsa, Lucie Bruijn PhDi, Jeffrey Rothstein MDj, Gabriele Mora MDk, Gabriella Restagno MDh, Adriano Chiò MDl, Andrew Singleton PhDb, John Hardy PhDa and Bryan J Traynor MDd, j
aLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
bMolecular Genetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
cComputational Biology Core, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
dSection on Developmental Genetic Epidemiology, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
eInstitute of Neurological Studies, University College London, London, UK
fDepartment of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK
gDepartment of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK
hMolecular Genetics Unit, ASO OIRM-S Anna, Turin, Italy
iThe ALS Association, FL, USA
jDepartment of Neurology, Johns Hopkins University, MD, USA
kFondazione Salvatore Maugeri, Pavia, Italy
lDepartment of Neuroscience, University of Turin, Turin, Italy
mDepartment of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
Available online 20 February 2007.
Summary
Background
The cause of sporadic ALS
is currently unknown. Despite evidence for a role for genetics, no common genetic variants have been unequivocally linked to sporadic 
ALS. We sought to identify genetic variants associated with an increased or decreased risk for developing ALS in a cohort of American sporadic cases.
Methods
We undertook a genome-wide association study using publicly available samples from 276 patients with sporadic ALS and 271 neurologically normal controls. 555 352 unique SNPs were assayed in each sample using the Illumina Infinium II HumanHap550 SNP chip.
Findings
More than 300 million genotypes were produced in 547 participants. These raw genotype data are freely available on the internet and represent the first publicly accessible SNP data for ALS cases. 34 SNPs with a p value less than 0·0001 (two degrees of freedom) were found, although none of these reached significance after Bonferroni correction.
Interpretation
We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified.
Correspondence to: Bryan J Traynor, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
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