TY - JOUR
T1 - Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype
AU - van den Berg, L. E.
AU - Drost, M.R.
AU - Schaart, G.
AU - de Laat, J.
AU - van Doorn, P.A.
AU - van der Ploeg, A.T.
AU - Reuser, A.J.
PY - 2013/1/1
Y1 - 2013/1/1
N2 - Pompe disease is a lysosomal storage disorder caused by acid alpha-glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement therapy (ERT) has ameliorated patients' perspectives, but reversal of skeletal muscle pathology remains a challenge. We studied pretreatment biopsies of 22 patients with different phenotypes to investigate to what extent fiber-type distribution and fiber-type-specific damage contribute to clinical diversity. Pompe patients have the same fiber-type distribution as healthy persons, but among nonclassic patients with the same GAA mutation (c.-32-13T>G), those with early onset of symptoms tend to have more type 2 muscle fibers than those with late-onset disease. Further, it seemed that the older, more severely affected classic infantile patients and the wheelchair-bound and ventilated nonclassic patients had a greater proportion of type 2x muscle fibers. However, as in other diseases, this may be caused by physical inactivity of those patients.
AB - Pompe disease is a lysosomal storage disorder caused by acid alpha-glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement therapy (ERT) has ameliorated patients' perspectives, but reversal of skeletal muscle pathology remains a challenge. We studied pretreatment biopsies of 22 patients with different phenotypes to investigate to what extent fiber-type distribution and fiber-type-specific damage contribute to clinical diversity. Pompe patients have the same fiber-type distribution as healthy persons, but among nonclassic patients with the same GAA mutation (c.-32-13T>G), those with early onset of symptoms tend to have more type 2 muscle fibers than those with late-onset disease. Further, it seemed that the older, more severely affected classic infantile patients and the wheelchair-bound and ventilated nonclassic patients had a greater proportion of type 2x muscle fibers. However, as in other diseases, this may be caused by physical inactivity of those patients.
U2 - 10.1007/s10545-012-9541-7
DO - 10.1007/s10545-012-9541-7
M3 - Article
C2 - 23053471
SN - 0141-8955
VL - 36
SP - 787
EP - 794
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 5
ER -