To screen for SQSTM1/p62 gene in Chinese patients with familial amyotrophic lateral sclerosis carrying superoxide dismutase 1 mutation
10.3760/cma.j.issn.0578-1426.2014.12.008
- VernacularTitle:携带超氧化物歧化酶1突变基因的家族性肌萎缩侧索硬化患者SQSTM1/p62基因筛查研究
- Author:
Yi YANG
;
Dongsheng FAN
- Publication Type:Journal Article
- Keywords:
Amyotrophic lateral sclerosis;
Superoxide dismutase;
Mutation;
Phenotype;
SQSTM1/p62
- From:
Chinese Journal of Internal Medicine
2014;53(12):957-960
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features and SQSTM1/p62 gene mutations in Chinese Han patients with familial amyotrophic lateral sclerosis linked superoxide dismutase 1 (SOD1) mutation (FALS-SOD1).Methods A total of 13 FALS-SOD1 probands and 100 healthy controls were studied,with DNA extracted from the peripheral blood.Sequencing was carried out at 8 exons,intron-exon boundaries and promoter region (2-kb upstream from the coding sequence) of SQSM1/p62.Clinical data were collected and all patients were followed-up.Phenotype-genotype relationship was analyzed.Results The insertion of T was found in intron 5 of SQSTM1/p62 gene [+ 1 insert T (TT > TG)] in a FALS-SOD1 G16A male proband,with limbs as the symptom onset and faster disease progression than the other two SOD1 G16A probands without SQSTM1/p62 gene mutation.Conclusions The insertion of T in the intron 5 of SQSTM1/ p62 gene may promote the ALS progression by damaging p62 function in the FALS-SOD1 G16A proband.