Pathophysiology of sarcopenia: Genetic factors and their interplay with environmental factors

Abstract

Sarcopenia is a geriatric disorder characterized by a progressive decline in muscle mass and function. This disorder has been associated with a range of adverse health outcomes, including fractures, functional deterioration, and increased mortality. The pathophysiology of sarcopenia is highly complex and multifactorial, involving both genetic and environmental factors as key contributors. This review consolidates current knowledge on the genetic factors influencing the pathogenesis of sarcopenia, particularly focusing on the altered gene expression of structural and metabolic proteins, growth factors, hormones, and inflammatory cytokines. While the influence of environmental factors such as physical inactivity, chronic diseases, smoking, alcohol consumption, and sleep disturbances on sarcopenia is relatively well understood, there is a dearth of studies examining their mechanistic roles. Therefore, this review emphasizes the interplay between genetic and environmental factors, elucidating their cumulative role in exacerbating the progression of sarcopenia beyond their individual effects. The unique contribution of this review lies in synthesizing the latest evidence on the genetic factors and their interaction with environmental factors, aiming to inform the development of novel therapeutic or preventive interventions for sarcopenia.

Keywords: Aging; Environmental factors; Genetics; Muscle atrophy; Sarcopenia.