Dataset Information

No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort.

ABSTRACT: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Recently a juvenile ALS patient was reported carrying the c.757delG mutation of the sorbitol dehydrogenase (SORD) gene, which was also a related mutation of Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (dHMN). ALS shares pathogenesis and overlapping genes with CMT and dHMN. We used whole-exome sequencing technology to screen the full-length SORD gene in 601 Chinese sporadic ALS patients and 174 controls without a history of neurological diseases. No SORD pathogenic variants were identified in the ALS patients. Our current results did not find an association between SORD and ALS in Chinese patients, and further studies will be required.

SUBMITTER: Yilihamu M

PROVIDER: S-EPMC9697221 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort.

Yilihamu Mubalake M He Ji J Tang Lu L Chen Yong Y Liu Xiaoxuan X Fan Dongsheng D

Journal of clinical medicine 20221118 22

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Recently a juvenile ALS patient was reported carrying the c.757delG mutation of the sorbitol dehydrogenase (SORD) gene, which was also a related mutation of Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (dHMN). ALS shares pathogenesis and overlapping genes with CMT and dHMN. We used whole-exome sequencing technology to screen the full-length SORD gene in 601 Chinese sporadic ALS pa ...[more]

PMID: 36431311

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Project description:ImportanceThere is growing interest in the role of nutrition in the pathogenesis and progression of amyotrophic lateral sclerosis (ALS).ObjectiveTo evaluate the associations between nutrients, individually and in groups, and ALS function and respiratory function at diagnosis.Design, setting, and participantsA cross-sectional baseline analysis of the Amyotrophic Lateral Sclerosis Multicenter Cohort Study of Oxidative Stress study was conducted from March 14, 2008, to February 27, 2013, at 16 ALS clinics throughout the United States among 302 patients with ALS symptom duration of 18 months or less.ExposuresNutrient intake, measured using a modified Block Food Frequency Questionnaire (FFQ).Main outcomes and measuresAmyotrophic lateral sclerosis function, measured using the ALS Functional Rating Scale-Revised (ALSFRS-R), and respiratory function, measured using percentage of predicted forced vital capacity (FVC).ResultsBaseline data were available on 302 patients with ALS (median age, 63.2 years [interquartile range, 55.5-68.0 years]; 178 men and 124 women). Regression analysis of nutrients found that higher intakes of antioxidants and carotenes from vegetables were associated with higher ALSFRS-R scores or percentage FVC. Empirically weighted indices using the weighted quantile sum regression method of "good" micronutrients and "good" food groups were positively associated with ALSFRS-R scores (β [SE], 2.7 [0.69] and 2.9 [0.9], respectively) and percentage FVC (β [SE], 12.1 [2.8] and 11.5 [3.4], respectively) (all P < .001). Positive and significant associations with ALSFRS-R scores (β [SE], 1.5 [0.61]; P = .02) and percentage FVC (β [SE], 5.2 [2.2]; P = .02) for selected vitamins were found in exploratory analyses.Conclusions and relevanceAntioxidants, carotenes, fruits, and vegetables were associated with higher ALS function at baseline by regression of nutrient indices and weighted quantile sum regression analysis. We also demonstrated the usefulness of the weighted quantile sum regression method in the evaluation of diet. Those responsible for nutritional care of the patient with ALS should consider promoting fruit and vegetable intake since they are high in antioxidants and carotenes.

Dataset Information

No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort.

Publications

No Association between the <i>SORD</i> Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort.

Similar Datasets

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