Year: 2024
Type: dissertation
Study design: Systematic Review
Abstract: Despite vitamin D deficiency clinically presenting with myopathy, muscle weakness, and atrophy, the mechanisms by which vitamin D exerts its regulatory effects upon skeletal muscle remain to be fully established.Recent studies have shown that the receptor by which 1α,25-dihydroxyvitamin D3 (1,25(OH)2D3) exerts its biological actions (i.e., the vitamin D receptor, VDR) elicits both genomic and non-genomic effects, i.e. modulation of proteostasis, mitochondria and signalling cascades, within skeletal muscle.Relative to more well-studied targets such as the skeleton, the impact of genetic variation within key vitamin D-related genes upon skeletal muscle is unclear.Identifying genetic variants capable of influencing musculoskeletal physiology may allow identification of those genetically predisposed to perturbed muscle mass and function.Therefore, this thesis aimed to explore the impact of genetic variation within the vitamin D system upon skeletal muscle function and to investigate the potential underlying mechanisms in vitro.This thesis begins with Chapter 1, which presents a narrative literature review of vitamin D physiology and the evidence suggesting a regulatory role for this endocrine system in skeletal muscle.In Chapter 2, a systematic review was conducted that examines the impact of genetic variance in key targets of the vitamin D pathway upon skeletal muscle function.This chapter revealed that, within the vitamin D system, the VDR gene is the primary gene of which associations between single nucleotide polymorphisms (SNPs) and muscle function have been investigated and, of all SNPs investigated, only A1012G was consistently associated with higher handgrip strength.
Author: Bollen, Shelby
Language: English
Topic: Vitamin D Research Studies
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7043272424