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「核ごみ」国、初の住民説明会 理解求める 北海道・神恵内村 (毎日新聞)

高レベル放射性廃棄物(核のごみ)最終処分場の選定に向けた文献調査応募の動きがある北海道神恵内(かもえない)村で26日夜、資源エネルギー庁と原子力発電環境整備機構...

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ニュース一覧

Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients.

著者 Narain P , Padhi AK , Dave U , Mishra D , Bhatia R , Vivekanandan P , Gomes J
Neurogenetics.2019 Aug 20 ; ():.
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Rare missense variants play a crucial role in amyotrophic lateral sclerosis (ALS) pathophysiology. We report rare/novel missense variants from 154 Indian ALS patients, identified through targeted sequencing of 25 ALS-associated genes. As pathogenic variants could explain only a small percentage of ALS pathophysiology in our cohort, we investigated the frequency of tolerated and benign novel/rare variants, which could be potentially ALS susceptible. These variants were identified in 5.36% (8/149) of sporadic ALS (sALS) cases; with one novel variant each in ERBB4, SETX, DCTN1, and MATR3; four rare variants, one each in PON2 and ANG and two different rare variants in SETX. Identified variants were either absent or present at extremely rare frequencies (MAF < 0.01) in large population databases and were absent in 50 healthy controls sequenced through Sanger method. Furthermore, an oligogenic basis of ALS was observed in three sALS, with co-occurrence of intermediate-length repeat expansions in ATXN2 and a rare/novel variant in DCTN1 and SETX genes. Additionally, molecular dynamics and biochemical functional analysis of an angiogenin variant (R21G) identified from our cohort demonstrated loss of ribonucleolytic and nuclear translocation activities. Our findings suggest that rare variants could be potentially pathogenic and functional studies are warranted to decisively establish the pathogenic mechanisms associated with them.
PMID: 31432357 [PubMed - as supplied by publisher]
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