Homozygous SMN2 Deletion is a Major Risk Factor among Twenty-Five Korean Sporadic Amyotrophic Lateral Sclerosis Patients
Yonsei Medical Journal
; : 53-57, 2012.
Article
em En
| WPRIM
| ID: wpr-95044
Biblioteca responsável:
WPRO
ABSTRACT
PURPOSE:
The association between survivor motor neuron (SMN) gene deletion and spinal muscular atrophy suggests that sporadic amyotrophic lateral sclerosis (sALS) may be related to SMN deletion. We examined the association between the SMN genotype and susceptibility to and severity of sALS. MATERIALS ANDMETHODS:
We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporadic ALS and 100 healthy subjects in a Korean population. Onset age and medical research council (MRC) scale were compared among patients according to SMN1 SMN2 genotypes.RESULTS:
There was a significantly higher incidence of homozygous deletion of SMN2 (SMN1 SMN2 genotype, 2 0) in sALS patients (20%) than in the normal controls (2%) (p<0.001). The onset age for patients with homozygous deletion of SMN2 (2 0) was significantly younger (34+/-15.38 years) than that of patients with 2 1, 2 2 and 2 3 of the SMN1 SMN2 genotype (59.5+/-5.09; 52.69+/-16.46 and 50+/-0.00 years) (p=0.049). The ratio of patients with an MRC scale above G4- was smaller in the 2 0 genotype (40%) than in the 2 1, 2 2 and 2 3 genotypes (83.3%, 100% and 100%) (p=0.02).CONCLUSION:
The homozygous SMN2 deletion (2 0) was statistically more frequent and associated with earlier onset age and lower MRC scale in Korean sALS patients. These suggest that SMN2 deletion may be one of the factors associated with susceptibility to and severity of sALS in a Korean population.Palavras-chave
Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Fatores de Risco
/
Deleção de Genes
/
Idade de Início
/
Povo Asiático
/
Proteína 2 de Sobrevivência do Neurônio Motor
/
República da Coreia
/
Homozigoto
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Yonsei Medical Journal
Ano de publicação:
2012
Tipo de documento:
Article