The pleiotropic role of X-linked SMPX gene mutations: Exploration of mechanism from deafness to myopathy.
10.3760/cma.j.cn511374-20250527-00331
- Author:
Haiming GAO
1
;
Rong HE
Author Information
1. Department of Clinical Genetics, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning 110004, China. her@sj-hospital.org.
- Publication Type:English Abstract
- MeSH:
Humans;
Mutation;
Muscle Proteins/metabolism*;
Deafness/genetics*;
Animals;
Muscular Diseases/genetics*;
Genes, X-Linked
- 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.
