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

Conforti, F.L.; Sprovieri, T.; Mazzei, R.; Ungaro, C.; La Bella, V.; Tessitore, A.; Patitucci, A.; Magariello, A.; Gabriele, A.L.; Tedeschi, G.; Simone, I.L.; Majorana, G.; Valentino, P.; Condino, F.; Bono, F.; Monsurrò, M.R.; Muglia, M.; Quattrone, A.

doi:10.1016/j.nmd.2007.07.003

« Previous Next »Neuromuscular Disorders
Volume 18, Issue 1 , Pages 68-70, January 2008

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

F.L. Conforti
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
T. Sprovieri
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
R. Mazzei
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
C. Ungaro
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
V. La Bella
- Department of Neurology and Psychiatry, University of Palermo, Palermo, Italy
A. Tessitore
- Second Division of Neurology, Second University of Naples, Naples, Italy
A. Patitucci
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
A. Magariello
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
A.L. Gabriele
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
G. Tedeschi
- Second Division of Neurology, Second University of Naples, Naples, Italy
I.L. Simone
- Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
G. Majorana
- Department of Neurosciences, Psychiatric and Anaesthesiological Sciences, University of Messina, Messina, Italy
P. Valentino
- Institute of Neurology, University Magna Graecia, Catanzaro, Italy
F. Condino
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
F. Bono
- Institute of Neurology, University Magna Graecia, Catanzaro, Italy
M.R. Monsurrò
- Second Division of Neurology, Second University of Naples, Naples, Italy
M. Muglia
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
A. Quattrone
- Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
- Institute of Neurology, University Magna Graecia, Catanzaro, Italy
- Corresponding author. Address: Institute of Neurology, University Magna Graecia, Campus Universitario, Viale Europa, 88100 Germaneto, Catanzaro, Italy. Tel.: +39 0961 3697075; fax: +39 0961 3697177.

Received 5 June 2007; received in revised form 12 July 2007; accepted 16 July 2007.

Abstract

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 rs11701 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.

Keywords: Angiogenin gene, ALS, Association study