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High-Resolution Melting (HRM) Analysis of the CuZn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients
Joint Authors
Akimoto, Chizuru
Atsuta, Naoki
Sobue, Gen
Morita, Mitsuya
Nakano, Imaharu
Source
Neurology Research International
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-04-12
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder, and the majority of ALS are sporadic (SALS).
Recently, several causative genes for familial ALS (FALS) were identified, but the cause of the SALS is still unknown.
This time, we aimed to identify the genetic background of SALS.
First, we applied the new sensitive screening methods: high-resolution melting (HRM) analysis.
HRM analysis detected 18 out of 19 known SOD1 gene mutations (94.7% sensitivity).
Next, we screened SOD1, three novel mutations (C6Y, Q22H, and S134T) were identified in our own 184 SALS cases (1.63% prevalence), and four mutations in another 255 SALS cases (1.56% prevalence) registered from all over Japan.
The patients with SOD1 mutations suggested a relatively young onset and limb involvement at onset.
The HRM analysis is a sensitive and easy screening method; we will use this method for screening other ALS causative genes and revealing the genetic background of SALS.
American Psychological Association (APA)
Akimoto, Chizuru& Morita, Mitsuya& Atsuta, Naoki& Sobue, Gen& Nakano, Imaharu. 2011. High-Resolution Melting (HRM) Analysis of the CuZn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients. Neurology Research International،Vol. 2011, no. 2011, pp.1-8.
https://search.emarefa.net/detail/BIM-451118
Modern Language Association (MLA)
Akimoto, Chizuru…[et al.]. High-Resolution Melting (HRM) Analysis of the CuZn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients. Neurology Research International No. 2011 (2011), pp.1-8.
https://search.emarefa.net/detail/BIM-451118
American Medical Association (AMA)
Akimoto, Chizuru& Morita, Mitsuya& Atsuta, Naoki& Sobue, Gen& Nakano, Imaharu. High-Resolution Melting (HRM) Analysis of the CuZn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients. Neurology Research International. 2011. Vol. 2011, no. 2011, pp.1-8.
https://search.emarefa.net/detail/BIM-451118
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-451118