The decrease in iNOS mRNA observed in this study cannot be attributed to genetic constitution of DMD, but can be explained by a growing number of studies that have shown that moderate (i.e. non-cytotoxic) oxidative stress down-regulates the expression of various genes (69). Accordingly, laser repaired this gene repression as exposure to energy dose 2 Joules/cm2; has been shown to increase in both transcription and translation activities in cells (70). This study reveals that oxidative stress is the prime cause for muscle degeneration in DMD, points
out to the possible ameliorative effect of He:Ne laser on Inhibitors,research,lifescience,medical this stress and shows that assessment to replicate ageing and oxidative stress in circulating peripheral blood cells is a reliable non-invasive technique.
Glycogen Storage Disease type
Inhibitors,research,lifescience,medical III (GSDIII; Cori-Forbes Disease; OMIM 232400) is an autosomal recessive disorder due to the deficiency of amylo-1,6-glucosydase, 4-α-glucantransferase enzyme (AGL, or Glycogen Debrancher Enzyme, GDE) which degrades glycogen branches releasing glucose in a two step reaction catalysed by its two distinct activities. GSDIII was first observed in the ’30s by van Creveld; in 1952 Illingworth and Cori described the abnormal structure of GSDIII glycogen Inhibitors,research,lifescience,medical (1). In 1953 Forbes correlated the abnormal glycogen structure with the typical symptoms of GSDIII (2). The AGL gene was cloned in 1992 (3). The main clinical phenotypes of this disease are due to involvement of liver and/or muscle. Phenotypic expression is highly variable. GSDIII features can be distinguished Inhibitors,research,lifescience,medical in two presentations, Inhibitors,research,lifescience,medical according to patient’s age. Infancy and childhood are characterised by recurrent fasting hypoglycemia, seizures, hepatomegaly, decreased muscle tone and growth retardation. During childhood and
early adulthood the symptoms seem to regress and most patients have only minimal signs of liver disease (4). The predominant symptoms in the adult form are distal weakness, affecting calves and peroneal muscles mostly, and proximal SRT1720 supplier weakness at a variable degree with a slow disease progression. Back pain and fatigue may be present. A number of patients show serum creatine kinase (CK) increase of 5-45 folds. for Neuropathy may occur due to glycogen storage in Schwann cells and axons. Hepatic dysfunction persists in few patients and cardiomyopathy, if present, is rarely severe. Debranching enzyme is a single 1532 aminoacid chain weighing about 165 kDa and consisting of two independent catalytic activities: oligo-1,4-1,4-glucantransferase [EC 184.108.40.206] and amylo-1,6-glucosidase [EC 220.127.116.11], localised in two distinct protein regions (5, 6).