肌萎縮側索硬化癥起因于運動大腦皮質(zhì)與脊髓的某些神經(jīng)死亡,。這些神經(jīng)控制著隨意肌（voluntary muscles）以及身體行動的能力,。當這些神經(jīng)死亡時,，人可能會變的虛弱甚至癱瘓。
肌萎縮側索硬化癥每年造成10,000名美國人死亡,，據(jù)估計發(fā)病率為2,000分之一,。前有幾種藥物可以用來減輕ALS的癥狀，但是ALS是一種無法痊愈的疾病,，目前病因未明,。
美國約翰霍浦金斯大學的科學家，第一次試著從基因組來尋找肌萎縮側索硬化癥的致病基因,。
研究人員表示,，他們在276名無血緣關系的肌萎縮側索硬化癥患者中，辨認出34個新的基因變異,。這34個所謂的單一核苷酸多型性,，這些基因有助于預測哪些人，可能發(fā)生這種非遺傳性的致命性神經(jīng)退化性疾病,。
雖然研究人員目前還未找出負責肌萎縮側索硬化癥的確切基因,，但是這項結果將可以縮小研究的范圍。這項研究結果發(fā)表于Lancet Neurology網(wǎng)絡版中,。
(資料來源 : 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
