Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis

Naini, A.; Musumeci, O.; Hayes, L.; Pallotti, F.; Del Bene, M.; Mitsumoto, H.

« Previous Next »Journal of the Neurological Sciences
Volume 198, Issue 1 , Pages 17-19, 15 June 2002

Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA

Received 9 November 2001; received in revised form 21 February 2002; accepted 25 February 2002.

Abstract

We report a new missense mutation (Ala140Gly) in exon 5 of the Cu/Zn superoxide dismutase (SOD-1) gene in a 73-year-old man with familial amyotrophic lateral sclerosis (FALS). The enzymatic activity of mutated SOD-1 measured in erythrocyte lysate was 70% of control. This heterozygote mutation, which is associated with the late onset of the disease, is located in the active site of the enzyme.

Keywords: Superoxide dismutase, Familial amyotrophic lateral sclerosis