Mamstr, also known as Myocyte enhancer factor-2-activating motif and SAP domain-containing transcriptional regulator, is a transcriptional regulator. It binds to promoter regions to regulate downstream genes, and is involved in transcriptional regulation, metabolic pathways, and cell development and differentiation, such as in the AMPK, TGF-beta, and adipocytokine signaling pathways, as well as fat digestion and absorption, and skeletal muscle-related processes [1]. It is a member of the myocardin family, which binds to the transcription factor serum response factor (SRF) and acts as co-activators controlling genes relevant for myogenic differentiation and motile function [3].

In the dy2J/dy2J mouse model of Lama2-CMD (Congenital muscular dystrophy type-1A), the down-regulation of Mamstr was detected compared to wild-type mice. This finding may explain the progressive dystrophic process in this model, as opposed to the massive regeneration seen in the mdx mouse model where key regeneration genes were up-regulated. This indicates that Mamstr is involved in the impaired skeletal muscle regeneration in the dy2J/dy2J mouse model [2].

In summary, Mamstr is crucial for transcriptional regulation and cell development-related processes, especially in skeletal muscle. The study of the dy2J/dy2J mouse model has revealed its role in the pathophysiology of Lama2-CMD, suggesting that understanding Mamstr may provide insights into muscle-related disease mechanisms and potential therapeutic targets.

References:

1. Li, Chenlei, Zhang, Zhe, Wei, Yilin, Yang, Feng, Han, Xuelei. 2023. Genome-Wide Analysis of MAMSTR Transcription Factor-Binding Sites via ChIP-Seq in Porcine Skeletal Muscle Fibroblasts. In Animals : an open access journal from MDPI, 13, . doi:10.3390/ani13111731. https://pubmed.ncbi.nlm.nih.gov/37889674/

2. Yanay, Nurit, Elbaz, Moran, Konikov-Rozenman, Jenya, Mitrani-Rosenbaum, Stella, Nevo, Yoram. . Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD. In Human molecular genetics, 28, 3369-3390. doi:10.1093/hmg/ddz180. https://pubmed.ncbi.nlm.nih.gov/31348492/

3. Swärd, Karl, Stenkula, Karin G, Rippe, Catarina, Gomez, Maria F, Albinsson, Sebastian. 2016. Emerging roles of the myocardin family of proteins in lipid and glucose metabolism. In The Journal of physiology, 594, 4741-52. doi:10.1113/JP271913. https://pubmed.ncbi.nlm.nih.gov/27060572/