Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.6.1 (sulfatase)
 3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Using electron microscopy and cytochemical techniques we investigated structures which are associated with long-term hypertension and ageing in the myocardial cell of the rat. Lysosomes, demonstrated by acid phosphatase and aryl sulfatase activities, were found mainly in the perinuclear region in young rats. With age these organelles appeared with increasing frequency in other regions of the cell. Spontaneously hypertensive rats (SHR) showed an earlier apparent migration of lysosomes than did normotensive rats (WKY). Our observations indicate that lysosomes were closely associated with autophagic vacuoles, membrane swirls , translucent mitochondria, myelin figures and other structures linked with degenerative events. In the oldest SHR lysosomes, autolysosomes (autophagic vacuoles with lysosomal activity), and degenerative structures were observed in various regions of the myocardial cell. Peroxisomes, as demonstrated by catalase activity, did not seem to be affected by hypertension or age. A number of dense osmophilic structures did not react for any of the enzymes studied; these included myelin figures, mitochondrial inclusions and diffuse dense bodies. Our observations implicate both ageing and hypertension in the enhancement of lysosomes and their end products.
J Mol Cell Cardiol 1984 Mar
PMID:Cytochemistry of myocardial structures related to degenerative processes in spontaneously hypertensive and normotensive rats. 623 95

The aim of the article is to gather and summarize the published data about the incidence, course of illness, treatment possibilities and complications of cardiovascular disorders in patients with mucopolysaccharidosis type VI (MPS VI) also known as Maroteaux-Lamy syndrome. MPS VI is a lysosomal storage disorder caused by deficient activity of N-acetylogalactosamine-4-sulfatase leading to progressive intracellular accumulation of glycosaminoglycans. The relatively low birth prevalence ranging from 1 in 43,000 to 1 in 1.5 million births mirrors the limited descriptions of the cardiovascular disorders in the medical literature. Patients with MPS VI can be specifically treated with enzyme replacement therapy. Extra-cardiac features include growth retardation, coarse facial features, stiff joints, skeletal malformations (dysostosis multiplex), respiratory problems, corneal clouding, and hepatosplenomegaly. The clinical presentation varies considerably, however the development of heart disease and cardiac dysfunction is a serious problem in the majority of patients. The most characteristic cardiac presentation is valvular disease, while other MPS VI patients also develop cardiomyopathy, fibroelastosis, pulmonary hypertension, cardiac conduction system disorders and other complications. There are also reports on acute heart failure. Early cardiovascular manifestation may escape detection since joint stiffness or skeletal malformations limit maximal exercise levels and respiratory system involvement may mask the underlining cardiac insufficiency. A correct and timely diagnosis offers the possibility of disease-specific treatment leading to sustained clinical benefits for cardiac and non-cardiac MPS VI manifestations.
Int J Cardiol 2012 Jun 28
PMID:Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). 2173 54