Role of <i>AMPD1</i> in metabolic regulation: Functions and applications

Adenosine monophosphate deaminase 1 (AMPD1) gene is highly expressed in human skeletal muscle, primarily responsible for the conversion of AMP to inosine monophosphate (IMP). It plays a crucial role in maintaining the homeostasis of the adenylate pool, energy metabolism and nucleotide synthesis. AMPD1 not only assists muscles in adapting to energy demands during exercise, but also regulates the AMPK signalling pathway, thereby influencing fatty acid oxidation, glucose uptake and adaptation to energetic stress. In addition, genetic variation or reduced activity of AMPD1 has been associated with myoadenylate deaminase deficiency, impaired exercise capacity, metabolic dysfunction and cardiovascular phenotypes. Therefore, this review summarizes current knowledge on the molecular characteristics, regulatory mechanisms and metabolic functions of AMPD1, with particular emphasis on its roles in exercise physiology, metabolic and cardiovascular disorders, aiming to provide new perspectives for related research.