Pathogenesis of Lactose Intolerance: Expression and Mutation of LCT Gene
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DOI: 10.23977/misbp.2022011
Author(s)
Xiaomi Ai, Aiyi Wang
Corresponding Author
Aiyi Wang
ABSTRACT
Lactose intolerance affects about two-thirds of the world's adult population. The evidence from the study of metabolic defects shows that the symptoms of specific inherited diseases reflected by some genes cannot dictate the synthesis of certain proteins or enzymes. It can be inferred that one of the types of lactose intolerance, congenital lactase deficiency (CLD), is closely related to the genetic disorder. Lactase gene (LCT gene) is the gene that directly associates with the pathology of CLD, its mutation will induce the expression of lactose intolerance. In addition to LCT gene, another gene that is near with it in the same region called minichromosome maintenance complex component 6 gene (MCM6 gene) is also responsible for the initiation of lactose intolerance because it is the enhancer of LCT gene, which controls whether the mutant genotype will express. Furthermore, the distinct magnitudes of single-nucleotide polymorphism of these two genes can trigger different phenotypes in the human body. Focus on one of the steps of the gene expression, transcription, whether the variation on the mRNA of LCT gene can influence the transcriptional gradient is also a noticeable factor of the pathogenesis. All these gene-related causes show that treating with genetic pathogenesis, like gene editing, is the critical breakthrough of healing lactose intolerance.
KEYWORDS
Lactose intolerance, LCT gene, MCM6 gene, Pathogenesis