Muscle cell outside and inside: the nascent approach of a clinician.
Understanding muscle cell in disease and health is an unfinished process. Following the lead of Jaime Alvarez, I have had the opportunity of working on two complementary approaches to this field. One is the study of muscle cell surface molecules. Both synaptic muscle molecules, such as the asymmetric form of acetylcholinesterase, and extrasynaptic molecules, such as the extracellular matrix proteoglycans, are regulated by the motor nerve activity. This illustrates one of Jaime's teachings: cell phenotypes are a dynamic process that reflects the influence of other cells (Alvarez, 2001). Proteoglycans have many functions, including growth factor receptors. Studying them in muscular dystrophy will contribute to the comprehension of the muscle regeneration failure, characteristic of this disease. Muscle cells are highly dependent upon energy production, and the mitochondriae produce most of it. These organelles are unique in having their own genome. Mutations in these genes have recently been recognized as the cause of human disease and originally in muscle pathology. The physiopathology of these diseases is summarized here.
Fadic
R
R
Departamento de Neurología Facultad de Medicina P. Universidad Católica de Chile. rfadic@med.puc.cl
D000110:Acetylcholinesterase / Q000737:chemistry; D002450:Cell Communication; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000503:physiopathology*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000503:physiopathology; D009132:Muscles / Q000166:cytology*
D004272:DNA, Mitochondrial; D000110:Acetylcholinesterase