A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

被引：50

作者：

Conforti, F. L. ^{[1
]}

Sprovieri, T. ^{[1
]}

Mazzei, R. ^{[1
]}

Ungaro, C. ^{[1
]}

La Bella, V. ^{[2
]}

Tessitore, A. ^{[3
]}

Patitucci, A. ^{[1
]}

Magariello, A. ^{[1
]}

Gabriele, A. L. ^{[1
]}

Tedeschi, G. ^{[3
]}

Simone, I. L. ^{[4
]}

Majorana, G. ^{[5
]}

Valentino, P. ^{[6
]}

Condino, F. ^{[1
]}

Bono, F. ^{[6
]}

Monsurro, M. R. ^{[3
]}

Muglia, M. ^{[1
]}

Quattrone, A. ^{[1
,6
]}

机构：

[1] CNR, Inst Neurol Sci, Cosenza, Italy

[2] Univ Palermo, Dept Neurol & Psychiat, Palermo, Italy

[3] Univ Naples 2, Div Neurol 2, Naples, Italy

[4] Univ Bari, Dept Neurol & Psychiat Sci, Bari, Italy

[5] Univ Messina, Dept Neurosci Psychiat & Anaesthesiol Sci, Messina, Italy

[6] Magna Graecia Univ Catanzaro, Inst Neurol, I-88100 Catanzaro, Italy

来源：

NEUROMUSCULAR DISORDERS | 2008年 / 18卷 / 01期

关键词：

Angiogenin gene; ALS; association study;

D O I：

10.1016/j.nmd.2007.07.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs 11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS. (C) 2007 Elsevier B.V. All rights reserved.

引用

页码：68 / 70

页数：3

共 6 条

[1] Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population [J].

Corrado, Lucia ;

Battistini, Stefania ;

Penco, SilVana ;

Bergarnaschi, Laura ;

Testa, Lucia ;

Ricci, Claudia ;

Glannini, Fablo ;

Greco, Giuseppe ;

Patrosso, Maria Cristina ;

Pileggi, Simona ;

Causarano, Renzo ;

Mazzini, Letizia ;

Momigliano-Richiardi, Patricia ;

D'Alfonso, Sandra .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2007, 258 (1-2) :123-127

[2] Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration [J].

Gass, Jennifer ;

Cannon, Ashley ;

Mackenzie, Ian R. ;

Boeve, Bradley ;

Baker, Matt ;

Adamson, Jennifer ;

Crook, Richard ;

Melquist, Stacey ;

Kuntz, Karen ;

Petersen, Ron ;

Josephs, Keith ;

Pickering-Brown, Stuart M. ;

Graff-Radford, Neill ;

Uitti, Ryan ;

Dickson, Dennis ;

Wszolek, Zbigniew ;

Gonzalez, John ;

Beach, Thomas G. ;

Bigio, Eileen ;

Johnson, Nancy ;

Weintraub, Sandra ;

Mesulam, Marsel ;

White, Charles L., III ;

Woodruff, Bryan ;

Caselli, Richard ;

Hsiung, Ging-Yuek ;

Feldman, Howard ;

Knopman, Dave ;

Hutton, Mike ;

Rademakers, Rosa .

HUMAN MOLECULAR GENETICS, 2006, 15 (20) :2988-3001

[3] ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis [J].

Greenway, MJ ;

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 .

NATURE GENETICS, 2006, 38 (04) :411-413

[4] 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

[5] Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis [J].

Kiraly, Orsolya ;

Boulling, Arnaud ;

Witt, Heiko ;

Le Marechal, Cedric ;

Chen, Jian-Mian ;

Rosendahl, Jonas ;

Battaggia, Cinzia ;

Wartmann, Thomas ;

Sahin-Toth, Miklos ;

Ferec, Claude .

HUMAN MUTATION, 2007, 28 (05) :469-476

[6] Another angiogenic gene linked to amyotrophic lateral sclerosis [J].

Lambrechts, Diether ;

Lafuste, Peggy ;

Carmeliet, Peter ;

Conway, Edward M. .

TRENDS IN MOLECULAR MEDICINE, 2006, 12 (08) :345-347

← 1 →