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J Med Genet ; 2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34544842


BACKGROUND: A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers. METHODS: A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed. FINDINGS: 155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72, FUS, NEK1, TARDBP and TBK1. By burden analysis, rare variants in SOD1, FUS and TARDBP contributed to the collective risk for ALS (p<2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition. CONCLUSIONS: Our data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.

Neural Regen Res ; 16(3): 591-595, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32985493


Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis. In the present retrospective case-control study, we included 582 patients with amyotrophic lateral sclerosis and 582 age- and sex-matched healthy controls. All amyotrophic lateral sclerosis participants received treatment in the Department of Neurology, West China Hospital, China, between May 2008 and December 2018. Serum creatine kinase levels in patients with amyotrophic lateral sclerosis were significantly higher than those in healthy controls. Subgroup analysis revealed that serum creatine kinase levels in men were higher than those in women in both amyotrophic lateral sclerosis patients and healthy controls. Compared with patients with bulbar-onset amyotrophic lateral sclerosis, patients with limb-onset amyotrophic lateral sclerosis had higher creatine kinase levels. Spearman's correlation analysis revealed that serum creatine kinase levels were not correlated with body mass index, Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised score, or progression rate. After adjusting for prognostic covariates, higher log creatine kinase values were correlated with higher overall survival in the amyotrophic lateral sclerosis patients. We also investigated the longitudinal changes in serum creatine kinase levels in 81 amyotrophic lateral sclerosis patients; serum creatine kinase levels were decreased at the second blood test, which was sampled at least 6 months after the first blood test. Together, our results suggest that serum creatine kinase levels can be used as an independent factor for predicting the prognosis of amyotrophic lateral sclerosis patients. This study received ethical approval from the Ethics Committee of West China Hospital, China (approval No. 2015(236)) on December 23, 2015.

Ying Yong Sheng Tai Xue Bao ; 27(2): 469-76, 2016 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-27396119


Physical characteristics of stem are closely relative to the crop lodging. Increase of stem strength is conducive to resolve the problem of lodging. Three soybean cultivars with different shade tolerance were planted under maize-soybean intercropping and soybean monocropping, respectively. Physiological and biochemical indices including cellulose, soluble sugar, sucrose, starch contents and enzyme activity were investigated to assess the snapping resistance and lodging resistance of the stems of soybean seedling, and snapping- and lodging-resistance indices were calculated for further verification. Furthermore, relationship analyses between these factors and the lodging of inter-cropped soybean showed that the intercropping soybean lodged seriously, the snapping resistance, lodging resistance index, contents of cellulose, soluble sugar, sucrose, starch and activities of the related enzymes were significantly lower than monocropping soybean at seedling stage. The three soybean cultivars showed different phenotypes in intercropping condition. The snapping-resistant Nandou12 with strong shade-tolerant traits was the most lodging-resistant phenotype, and it also harbored high contents of cellulose, soluble sugar, sucrose, starch and active enzymes. The lodging resistance index, cellulose content of the stems of intercropped soybean seedling were significantly positively correlated with the snapping resistance, and were significantly negatively correlated with the actual lodging percentage. The activities of sucrose phosphate synthase (SPS) , sucrose synthase (SS) and neutral invertase (NI) were positively correlated with sucrose is content, but not the acid invertase (AI). The activities of SPS, NI and SS were positively correlated with cellulose content, but not Al. In a word, the high activities of SPS and SS in the soybean stem were the enzymatic basis to maintain relatively higher cellulose and sucrose content, which is conducive to improve the stem-sfrength and enhance the lodging resistance ability in intercropping condition. Effects of different light conditions on cellulose metabolic mechanism of soybean seedling stems, lodging resistant characteristics of soybean seedlings studied in the corn-soybean intercropping system provided a basis for screening more shade-tolerant soybean variety.

Agricultura/métodos , Celulose/biossíntese , Soja/metabolismo , Zea mays , Metabolismo dos Carboidratos , Glucosiltransferases/metabolismo , Plântula/metabolismo , Amido/análise , Sacarose/análise , beta-Frutofuranosidase/metabolismo