Current Insights into LAMA2 Disease

Congenital muscular dystrophy with deficiency of laminin α2 chain (LAMA2-CMD) is an autosomal recessive disorder due to mutations in the LAMA2 gene. As a consequence, laminin heterotrimers containing the α2 chain are not assembled or are expressed at very low levels, causing progressive degeneration of skeletal muscles, nerves, and the brain. Thus, this defect results in a severe multi-organ disorder characterized by the progressive wasting of skeletal muscle, demyelinating peripheral neuropathy, and brain abnormalities causing death in the first decade or serious disability. 

A number of mouse models reproducing clinical and pathological features of human LAMA2-CMD are available and recent advances in molecular genetics identified some of the molecular mechanisms that are deregulated downstream of the primary defect. The scientific community has been using these findings to better characterize the pathogenesis, to identify useful biomarkers, and to generate therapeutic strategies to ameliorate the disease. 

The aim of this Research Topic is to cover different aspects of the LAMA2-CMD disease, including molecular pathomechanisms, main clinical findings, lessons from animal models, development of potential treatments on the basis of mechanistic understanding, and the identification of potential biomarkers of the disease.