The pleiotropic role of X-linked SMPX gene mutations: Exploration of mechanism from deafness to myopathy
10.3760/cma.j.cn511374-20250527-00331
- VernacularTitle:X连锁 SMPX基因的多效性作用：从耳聋到远端肌病的机制探索
- Author:
Haiming GAO
1
;
Rong HE
1
Author Information
1. 中国医科大学附属盛京医院临床遗传科，沈阳 110004
- Publication Type:Journal Article
- Keywords:
SMPX gene;
Distal myopathy;
Hereditary myopathy;
Neurodegenerative disease;
Genetic diagnosis
- From:
Chinese Journal of Medical Genetics
2025;42(7):890-895
- CountryChina
- Language:Chinese
-
Abstract:
The SMPX (small muscle protein X-linked) gene encodes a small-molecular-weight protein that is mainly expressed in skeletal and cardiac muscles and is involved in cytoskeletal dynamics and mechanical stress responses. In recent years, missense variants of the SMPX gene have been identified as the cause of a novel X-linked distal myopathy (Distal myopathy 7). This article has systematically reviewed the molecular functions, variant types, and pathological mechanisms of the SMPX gene by integrating its clinical classification, molecular pathological evidence, and experimental model data, and revealed its pathgenetic mechanism through protein aggregation, dynamic dysregulation of stress granules, abnormal Rac1/p38 signaling pathways, and future research directions.
