
라마2형 선천성 근이영양증(LAMA2-CMD)의 발병은 라미닌-α2 체인의 부재로 인해 세포 분화 및 융합에 심각한 결함을 초래하고, 세포 주기 조절 이상, DNA 손상 증가, 산화 스트레스 증가와 같은 다양한 세포 과정에 영향을 미칩니다.


coremsg

LAMA2 -congenital muscular dystrophy (LAMA2-CMD) is the most common congenital muscular dystrophy. This often-lethal disease is triggered by mutations in LAMA2 , coding for laminin-α2 chain, a key extracellular matrix (ECM) component, prevalent in the skeletal muscle. Several phenotypes have been associated with LAMA2-CMD, however, it is not yet known what mechanisms are faulty, right at disease onset in utero . Using the dyW mouse model of LAMA2-CMD we showed that the disease onset is characterized by a profound downregulation of gene expression, with a marked effect on cytoskeletal organization, myoblast differentiation and fusion and altered DNA repair and oxidative stress responses. Concordantly, we found that Lama2 -deficient myoblast cells displayed proliferation and differentiation defects, increased oxidative stress and DNA damage. Together, our findings provide unique insights into the processes dependent on laminin-α2 chain during muscle development, revealing its critical importance to maintain muscle cell homeostasis already at fetal stages.

### Competing Interest Statement

The authors have declared no competing interest.

Deregulation of multiple mechanisms shapes the onset of LAMA2-congenital muscular dystrophy

라마2형-선천성-근이영양증-발병을-촉발하는-다중-메커니즘의-조절-장애


라마2형 선천성 근이영양증 발병을 촉발하는 다중 메커니즘의 조절 장애
