Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.
In the pathogenesis of dilated cardiomyopathy (DCM) in Emery-Dreifuss muscular dystrophy (EDMD) matrix metalloproteinases (MMPs) are supposed to be involved and may have diagnostic/prognostic value. Serum levels of MT1-MMP, MMP-2 and MMP-9 were quantified by ELISA and zymography in 22 EDMD patients and 15 age-matched controls. In the autosomal-dominant EDMD MMP-2 and MT1-MMP were increased in all cases, and MMP-9 was increased in two of the eight examined patients. In the X-linked EDMD MMP-2 expression was increased in all the cases, MMP-9 level was elevated in 3 of the 14 cases, and MT1-MMP was decreased in eight of these patients. There was no evident correlation between the MMPs level and the different cardiac parameters including left-ventricular end-diastolic diameter, left atrial diameter and left ventricular ejection fraction in either form of EDMD. The presented results indicate that a changed level of matrix metalloproteinases, especially that of MMP-2 in serum, may be of value for detection of cardiac involvement in EDMD patients, especially in those patients with no evident subjective cardiac symptoms. Further follow-up studies of MMPs are needed to check if their determination is of value for monitoring of the progression of atrial/ventricular dilatation. MMPs determinations may also be useful for monitoring DCM treatment by synthetic MMPs inhibitors.
Niebroj-Dobosz
Irena
I
Neuromuscular Unit, Institute of Clinical and Experimental Medicine, Polish Academy of Sciences, Warszawa, Poland. dobosz@cmdik.pan.pl
Madej-Pilarczyk
Agnieszka
A
Marchel
Michał
M
Sokołowska
Beata
B
Hausmanowa-Petrusewicz
Irena
I
D000293:Adolescent; D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000201:enzymology*; D005260:Female; D006801:Humans; D008297:Male; D053511:Matrix Metalloproteinase 14 / Q000097:blood*; D020778:Matrix Metalloproteinase 2 / Q000097:blood*; D020780:Matrix Metalloproteinase 9 / Q000097:blood*; D008875:Middle Aged; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000097:blood / Q000201:enzymology*
D020778:Matrix Metalloproteinase 2; D020780:Matrix Metalloproteinase 9; C507086:MMP14 protein, human; D053511:Matrix Metalloproteinase 14