As far as we know, the only data about gene therapy on man concern one case of Mucopolysaccharidosis II (18), three selleck chemicals Sorafenib patients affected by Mucopolysaccharidosis I (19) and some patients suffering from Gaucher disease (20). Considering the researches carried out so far, we think that many problems have still to be solved before proving unequivocally effectiveness and safety of this treatment in man: a patient’s optimal age for undergoing gene therapy, the possible development of immunologic reactions,
the capability to modulate both levels and duration of enzyme activity, the need of finding a specific ablative regimen for BMT Inhibitors,research,lifescience,medical approach. Conclusions As above reported, therapeutic approaches toward finding treatment options fit to face the underlying causes are many: so far positive results, unanimously Inhibitors,research,lifescience,medical accepted by the international scientific community, have been obtained only for few lysosomal disorders. However, LSDs, though quite rare diseases, are getting more and more investments from private enterprises interested in orphan drug production. Inhibitors,research,lifescience,medical The above mentioned fact lets us hope that, in a near future, the natural development of more and more diseases will be influenced and thus modified.
McArdle disease or Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase,
PYGM), the specific skeletal muscle enzyme that initiates glycogen breakdown. Since the first clinical description by Brian McArdle in 1951, several patients have been identified worldwide and significant advances have been made in the study of molecular genetics of the disease. Inhibitors,research,lifescience,medical Molecular heterogeneity has been demonstrated by the identification to date of more than 65 mutations in the PYGM gene. In this paper, we will present an update on the mutations Inhibitors,research,lifescience,medical reported to date in the PYGM gene. Keywords: McArdle disease, Glycogenosis type V, PYGM gene Clinical data McArdle disease or Glycogen Storage Disease
type V (GSD-V; MIM # 232600) is the most common muscle glycogenosis caused by the deficiency muscle glycogen phosphorylase (myophosphorylase, EC 2.4.1.1) activity. GSD-V is clinically characterized by exercise intolerance with premature fatigue, cramps, myalgia, moderate to high levels of serum creatine kinase (CK) at rest, and by episodic myoglobinuria (1). All McArdle patients experience Batimastat the so-called ‘second-wind’ phenomenon, characterized by the ability to resume exercise with less difficulty, after following a short period of rest at the first appearance of fatigue (2). A subset of patients develops fixed weakness and wasting with aging, HTS indicating phenotypic variability). The diagnosis is based on the clinical phenotype and DNA analysis is suggested as the first choice in the diagnostic approach.