ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

被引：539

作者：

Greenway, MJ ^{[1
]}

Andersen, PM

Russ, C

Ennis, S

Cashman, S

Donaghy, C

Patterson, V

Swingler, R

Kieran, D

Prehn, J

Morrison, KE

Green, A

Acharya, KR

Brown, RH

Hardiman, O

机构：

[1] Royal Coll Surgeons Ireland, Dept Clin Neurol Sci, Dublin 2, Ireland

[2] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland

[3] Umea Univ, Dept Neurol, S-90187 Umea, Sweden

[4] Massachusetts Gen Hosp, Day Neuromuscular Res Lab, Boston, MA 02114 USA

[5] Univ Coll Dublin, Sch Med & Med Sci, Conway Inst, Dublin, Ireland

[6] Royal Victoria Hosp, Dept Neurol, Belfast BT12 6BA, Antrim, North Ireland

[7] Univ Dundee, Ninewells Hosp, Dept Neurol, Dundee, Scotland

[8] Royal Coll Surgeons Ireland, Dept Physiol, Dublin 2, Ireland

[9] Univ Birmingham, Dept Clin Neurosci, Birmingham, W Midlands, England

[10] Univ Bath, Dept Biol & Biochem, Bath BA2 7AY, Avon, England

[11] Beaumont Hosp, Dept Neurol, Dublin 9, Ireland

来源：

NATURE GENETICS | 2006年 / 38卷 / 04期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng1742

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.

引用

页码：411 / 413

页数：3

共 15 条

[1] CRYSTAL-STRUCTURE OF HUMAN ANGIOGENIN REVEALS THE STRUCTURAL BASIS FOR ITS FUNCTIONAL DIVERGENCE FROM RIBONUCLEASE [J].

ACHARYA, KR ;

SHAPIRO, R ;

ALLEN, SC ;

RIORDAN, JF ;

VALLEE, BL .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (08) :2915-2919

[2] The SOD1 transgene in the G93A mouse model of amyotrophic lateral sclerosis lies on distal mouse chromosome 12 [J].

Achilli, F ;

Boyle, S ;

Kieran, D ;

Chia, R ;

Hafezparast, M ;

Martin, JE ;

Schiavo, G ;

Greensmith, L ;

Bickmore, W ;

Fisher, EMC .

AMYOTROPHIC LATERAL SCLEROSIS, 2005, 6 (02) :111-114

[3] VEGF delivery with retrogradely transported lentivector prolongs survival in a mouse ALS model [J].

Azzouz, M ;

Ralph, GS ;

Storkebaum, E ;

Walmsley, LE ;

Mitrophanous, KA ;

Kingsman, SM ;

Carmeliet, P ;

Mazarakis, ND .

NATURE, 2004, 429 (6990) :413-417

[4] REPLACEMENT OF RESIDUES-8-22 OF ANGIOGENIN WITH 7-21 OF RNASE-A SELECTIVELY AFFECTS PROTEIN-SYNTHESIS INHIBITION AND ANGIOGENESIS [J].

BOND, MD ;

VALLEE, BL .

BIOCHEMISTRY, 1990, 29 (13) :3341-3349

[5] ISOLATION AND CHARACTERIZATION OF ANGIOGENIN, AN ANGIOGENIC PROTEIN FROM HUMAN CARCINOMA-CELLS [J].

FETT, JW ;

STRYDOM, DJ ;

LOBB, RR ;

ALDERMAN, EM ;

BETHUNE, JL ;

RIORDAN, JF ;

VALLEE, BL .

BIOCHEMISTRY, 1985, 24 (20) :5480-5486

[6] A novel candidate region for ALS on chromosome 14q11.2 [J].

Greenway, MJ ;

Alexander, MD ;

Ennis, S ;

Traynor, BJ ;

Corr, B ;

Frost, E ;

Green, A ;

Hardiman, O .

NEUROLOGY, 2004, 63 (10) :1936-1938

[7] 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

[8] Endogenous angiogenin in endothelial cells is a general requirement for cell proliferation and angiogenesis [J].

Kishimoto, K ;

Liu, SM ;

Tsuji, T ;

Olson, KA ;

Hu, GF .

ONCOGENE, 2005, 24 (03) :445-456

[9] 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

[10] NUCLEAR TRANSLOCATION OF ANGIOGENIN IN PROLIFERATING ENDOTHELIAL-CELLS IS ESSENTIAL TO ITS ANGIOGENIC ACTIVITY [J].

MOROIANU, J ;

RIORDAN, JF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (05) :1677-1681

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