Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.

ABSTRACT: Mutations in the Immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene result in two distinct diseases, SMA with Respiratory Distress Type I (SMARD1) and Charcot Marie Tooth Type 2S (CMT2S). To understand the phenotypic and molecular differences between SMARD1 and CMT2S, and the role of IGHMBP2 in disease development, we generated mouse models based on six IGHMBP2 patient mutations. Previously, we reported the development and characterization of Ighmbp2^D564N/D564N mice and in this manuscript, we examine two mutations: D565N (D564N in mice) and H924Y (H922Y in mice) in the Ighmbp2^H922Y/H922Y and Ighmbp2^D564N/H922Y contexts. We found significant differences between these mouse models, providing critical insight into the role of IGHMBP2 in the pathogenesis of

SUBMITTER: Ricardez Hernandez SM 

PROVIDER: S-EPMC11611604 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature