Total absence of dystrophin expression exacerbates ectopic myofiber calcification, fibrosis, and alters macrophage infiltration patterns

Duchenne muscular dystrophy (DMD) causes severe disability and death of young men due to progressive muscle degeneration aggravated by sterile inflammation. DMD is also associated with cognitive and bone-function impairments. This complex phenotype results from the cumulative loss of a spectrum of dystrophin isoforms expressed from the largest human gene. Although there is evidence for the loss of shorter isoforms having impact in the central nervous system, their role in muscle is unclear. We found that at eight weeks, the active phase of pathology in dystrophic mice, dystrophin-null mice (mdx βgeo) presented with a mildly exacerbated phenotype but without an earlier onset, increased serum CK levels, or decreased muscle strength.

Source: American Journal of Pathology - November 10, 2019 Category: Pathology Authors: Christopher NJ. Young, Maxime RF. Gosselin, Robin Rumney, Aleksandra Oksiejuk, Natalia Chira, Lukasz Bozycki, Pawe ł Matryba, Kacper Łukasiewicz, Alex P. Kao, Joseph Dunlop, Samuel C. Robson, Krzysztof Zabłocki, Dariusz C. Górecki Source Type: research