One‐carbon metabolism pathway genes and their non‐association with the development of amyotrophic lateral sclerosis

Although of unknown etiology, some mechanisms associated with the metabolic cycle of folate are speculated to be related to the genesis of amyotrophic lateral sclerosis (ALS). Thus, the aim of the study was to analyze the role of genetic polymorphisms rs1051266 in SLC19A1 gene and rs1805087 in MTR g...

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Bibliographic Details
Published in:Journal of cellular biochemistry 2022-03, Vol.123 (3), p.620-627
Main Authors: Lima, Nayane S., Costa, Caroline C. P., Assunção, Leandro do P., Santos, Kamilla de F., Bento, Dhiogo da C. P., Silva Reis, Angela A., Santos, Rodrigo da S.
Format: Article
Language:English
Subjects:
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
Carbon
Case-Control Studies
Etiology
folate metabolism
Folic acid
Folic Acid - metabolism
Gene polymorphism
Genetic diversity
genetic polymorphisms
Genetic Predisposition to Disease
Genetic variance
Genotype
Genotypes
Heredity
Humans
Metabolism
methionine synthase
MTR gene
neurodegenerative disease
Neurodegenerative diseases
Polymerase chain reaction
Polymorphism
Polymorphism, Single Nucleotide
reduced folate carrier
Restriction fragment length polymorphism
Statistical analysis
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Summary:Although of unknown etiology, some mechanisms associated with the metabolic cycle of folate are speculated to be related to the genesis of amyotrophic lateral sclerosis (ALS). Thus, the aim of the study was to analyze the role of genetic polymorphisms rs1051266 in SLC19A1 gene and rs1805087 in MTR gene and their associations with ALS development. A case–control study was conducted with 101 individuals with ALS and 119 individuals without diagnosis of neurodegenerative diseases, from the Brazilian central population. The polymorphisms were determined using the polymerase chain reaction‐restriction fragment length polymorphism technique. The results showed no statistically significant differences, even when genotypes were analyzed by the dominant, recessive, codominant, and overdominant inheritance models. It was observed a statistical significance relating alcohol consumption with individuals in the case group (p = 0.01). Therefore, the need for more studies to evaluate the influence of genetic variants is highlighted, seeking to provide information on the etiopathogenesis of ALS.
ISSN:0730-2312
1097-4644
DOI:10.1002/jcb.30208