Skeletal Muscle Pathogenesis in Polyglutamine Diseases.
Caterina MarchiorettiEmanuela ZuccaroUdai Bhan PandeyJessica RosatiManuela BassoMaria PennutoPublished in: Cells (2022)
Polyglutamine diseases are characterized by selective dysfunction and degeneration of specific types of neurons in the central nervous system. In addition, nonneuronal cells can also be affected as a consequence of primary degeneration or due to neuronal dysfunction. Skeletal muscle is a primary site of toxicity of polyglutamine-expanded androgen receptor, but it is also affected in other polyglutamine diseases, more likely due to neuronal dysfunction and death. Nonetheless, pathological processes occurring in skeletal muscle atrophy impact the entire body metabolism, thus actively contributing to the inexorable progression towards the late and final stages of disease. Skeletal muscle atrophy is well recapitulated in animal models of polyglutamine disease. In this review, we discuss the impact and relevance of skeletal muscle in patients affected by polyglutamine diseases and we review evidence obtained in animal models and patient-derived cells modeling skeletal muscle.
Keyphrases
- skeletal muscle
- insulin resistance
- induced apoptosis
- oxidative stress
- end stage renal disease
- cell cycle arrest
- newly diagnosed
- chronic kidney disease
- adipose tissue
- metabolic syndrome
- cell death
- endoplasmic reticulum stress
- peritoneal dialysis
- cell proliferation
- cerebrospinal fluid
- subarachnoid hemorrhage
- signaling pathway