A novel candidate region for ALS on chromosome 14q11.2

被引:147
作者
Greenway, MJ
Alexander, MD
Ennis, S
Traynor, BJ
Corr, B
Frost, E
Green, A
Hardiman, O
机构
[1] Royal Coll Surgeons Ireland, Dept Clin Neurol Sci, Dublin 2, Ireland
[2] Beaumont Hosp, Dept Neurol, Dublin 9, Ireland
[3] Univ Coll Dublin, Our Ladys Hosp Sick Children, Conway Inst Biomol & Biomed Res, Dept Med Genet, Dublin, Ireland
[4] MassGen Inst Neurodegenerat Dis, Cecil B Day Lab Neuromuscular Res, Boston, MA USA
[5] Irish Motor Neurone Dis Assoc, Dublin, Ireland
关键词
D O I
10.1212/01.WNL.0000144344.39103.F6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
`Sequence variations with biologic effect in ALS have been identified in the gene for vascular endothelial growth factor ( VEGF). The gene for a related protein, angiogenin, lies on chromosome 14q11.2. Analysis of the angiogenin (ANG) gene in the authors' population has demonstrated a significant allelic association with the rs11701 single nucleotide polymorphism ( SNP) and identified a novel mutation in two individuals with sporadic ALS that potentially inhibits angiogenin function. These observations propose a candidate region for ALS on chromosome 14q11.2 and suggest that other genes with similar function to VEGF may be important in the pathogenesis of ALS.
引用
收藏
页码:1936 / 1938
页数:3
相关论文
共 10 条
[1]  
Distler JHW, 2003, Q J NUCL MED, V47, P149
[2]   DUAL SITE MODEL FOR THE ORGANOGENIC ACTIVITY OF ANGIOGENIN [J].
HALLAHAN, TW ;
SHAPIRO, R ;
VALLEE, BL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (06) :2222-2226
[3]   Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis [J].
Hayward, C ;
Colville, S ;
Swingler, RJ ;
Brock, DJH .
NEUROLOGY, 1999, 52 (09) :1899-1901
[4]   VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death [J].
Lambrechts, D ;
Storkebaum, E ;
Morimoto, M ;
Del-Favero, J ;
Desmet, F ;
Marklund, SL ;
Wyns, S ;
Thijs, V ;
Andersson, J ;
van Marion, I ;
Al-Chalabi, A ;
Bornes, S ;
Musson, R ;
Hansen, V ;
Beckman, L ;
Adolfsson, R ;
Pall, HS ;
Prats, H ;
Vermeire, S ;
Rutgeerts, P ;
Katayama, S ;
Awata, T ;
Leigh, N ;
Lang-Lazdunski, L ;
Dewerchin, M ;
Shaw, C ;
Moons, L ;
Vlietinck, R ;
Morrison, KE ;
Robberecht, W ;
Van Broeckhoven, C ;
Collen, D ;
Andersen, PM ;
Carmeliet, P .
NATURE GENETICS, 2003, 34 (04) :383-394
[5]   Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration [J].
Oosthuyse, B ;
Moons, L ;
Storkebaum, E ;
Beck, H ;
Nuyens, D ;
Brusselmans, K ;
Van Dorpe, J ;
Hellings, P ;
Gorselink, M ;
Heymans, S ;
Theilmeier, G ;
Dewerchin, M ;
Laudenbach, V ;
Vermylen, P ;
Raat, H ;
Acker, T ;
Vleminckx, V ;
Van den Bosch, L ;
Cashman, N ;
Fujisawa, H ;
Drost, MR ;
Sciot, R ;
Bruyninckx, F ;
Hicklin, DJ ;
Ince, C ;
Gressens, P ;
Lupu, F ;
Plate, KH ;
Robberecht, W ;
Herbert, JM ;
Collen, D ;
Carmeliet, P .
NATURE GENETICS, 2001, 28 (02) :131-138
[6]   ROLE OF LYSINES IN HUMAN ANGIOGENIN - CHEMICAL MODIFICATION AND SITE-DIRECTED MUTAGENESIS [J].
SHAPIRO, R ;
FOX, EA ;
RIORDAN, JF .
BIOCHEMISTRY, 1989, 28 (04) :1726-1732
[7]   AMINO-ACID SEQUENCE OF HUMAN-TUMOR DERIVED ANGIOGENIN [J].
STRYDOM, DJ ;
FETT, JW ;
LOBB, RR ;
ALDERMAN, EM ;
BETHUNE, JL ;
RIORDAN, JF ;
VALLEE, BL .
BIOCHEMISTRY, 1985, 24 (20) :5486-5494
[8]   Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS) [J].
Tomkins, A ;
Dempster, S ;
Banner, SJ ;
Cookson, MR ;
Shaw, PJ .
NEUROREPORT, 2000, 11 (08) :1695-1697
[9]   Incidence and prevalence of ALS in Ireland, 1995-1997 - A population-based study [J].
Traynor, BJ ;
Codd, MB ;
Corr, B ;
Forde, C ;
Frost, E ;
Hardiman, O .
NEUROLOGY, 1999, 52 (03) :504-509
[10]   TISSUE DISTRIBUTION AND DEVELOPMENTAL EXPRESSION OF THE MESSENGER-RNA ENCODING ANGIOGENIN [J].
WEINER, HL ;
WEINER, LH ;
SWAIN, JL .
SCIENCE, 1987, 237 (4812) :280-282