TY - JOUR 
A1 - Luna, Noemí de
AU - Brull, Astrid
AU - Lucía Mulas, Alejandro
AU - Santalla Hernández, Alfredo
AU - Garatachea, Nuria
AU - Martí, Ramón
AU - Andreu, Antoni L.
AU - Pinós, Tomás
T1 - PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?
Y1 - 2014
SN - 09608966
UR - http://hdl.handle.net/11268/3730
AB - McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. In severe cases, these manifestations can be accompanied by rhabdomyolysis, myoglobinuria, and fatal renal failure. Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence of myophosphorylase activity in skeletal muscle biopsies and genetic analysis of the myophosphorylase-encoding gene, PYGM. The recently reported association between myophosphorylase and Rac1 GTPase in a T lymphocyte cell line prompted us to study myophosphorylase expression in white blood cells (WBCs) from 20 healthy donors and 30 McArdle patients by flow cytometry using a fluorescent-labeled PYGM antibody. We found that T lymphocytes expressed myophosphorylase in healthy donors, but expression was significantly lower in McArdle patients (p<0.001). PYGM mRNA levels were also lower in white blood cells from McArdle patients. Nevertheless, in 13% of patients (who were either heterozygotes or homozygotes for the most common PYGM pathogenic mutation among Caucasians (p.R50X)), the percentage of myophosphorylase-positive white blood cells was not different compared with the control group. Our findings suggest that analysis of myophosphorylase expression in white blood cells might be a useful, less-invasive, complementary test for diagnosing McArdle disease
KW - Genética
KW - Condición física
KW - Genética
LA - spa
ER -