P59 Generation and characterization of a novel XMEA mouse model and pharmacological evaluation of autophagy antagonists

X-linked myopathy with excessive autophagy (XMEA) is a rare autophagic vacuolar myopathy, characterized by progressive proximal weakness, internalization of capillaries, muscle fiber splitting, high levels of serum creatine kinase and accumulation of cytoplasmic autophagic vacuoles. VMA21 pathogenic mutations reduce the efficiency of autolysosome to acidify proteins resulting in the accumulation of vacuolar inclusions in XMEA patients. The VMA21 protein maintains the V-ATPase protein pump, which is responsible for the acidification of lysosomes, and is disrupted in XMEA.

Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: M. Karuppasamy, K. English, V. Sanders, M. Lopez, G. Kaur, L. Worthey, L. Huang, J. Dowling, M. Alexander Source Type: research