Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

Abstract The expansion of a noncoding hexanucleotide repeat (GGGGCC) in the chromosome 9 open reading frame ( C9orf72 ) gene has been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) in Caucasian populations. The role of the C9orf72 repeat expansion in...

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Bibliographic Details
Published in:Neurobiology of aging 2013-04, Vol.34 (4), p.1311.e7-1311.e9
Main Authors: Jang, Ja-Hyun, Kwon, Min-Jung, Choi, Won Jun, Oh, Ki-Wook, Koh, Seong-Ho, Ki, Chang-Seok, Kim, Seung Hyun
Format: Article
Language:English
Subjects:
Aging
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - epidemiology
Amyotrophic Lateral Sclerosis - genetics
C9orf72
C9orf72 Protein
chromosome 9
DNA Repeat Expansion - genetics
Genetic Markers - genetics
Genetic Predisposition to Disease - epidemiology
Genetic Predisposition to Disease - genetics
Hexanucleotide repeat
Humans
Internal Medicine
Korean
Nervous system
Neurology
Open reading frames
Polymorphism, Single Nucleotide - genetics
Prevalence
Proteins - genetics
Republic of Korea - epidemiology
Risk Factors
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Summary:Abstract The expansion of a noncoding hexanucleotide repeat (GGGGCC) in the chromosome 9 open reading frame ( C9orf72 ) gene has been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) in Caucasian populations. The role of the C9orf72 repeat expansion in Korean ALS patients, however, has not been reported. We therefore investigated the frequency of the C9orf72 repeat expansion in 254 Korean patients with familial ( n  = 8) and sporadic ( n  = 246) ALS and found that none of the patients had the expansion. The number of hexanucleotide repeats ranged from 2 to 11 in the 254 ALS patients without the expansion. Our results suggest that the C9orf72 repeat expansion is not the main cause of ALS in the Korean population.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2012.09.004