Multisystemic lamp-2 defect in danon disease
WebMalfunctioning LAMP2 (classified as Danon's disease) and adenosine monophosphate (AMP)-activated kinase gamma 2 proteins (PRKAG2) can result in glycogen accumulation in heart and skeletal muscle. Between the ages of 8 and 15 years, patients with LAMP2 deficiency typically present with chest pain, heart palpitations, syncope, and cardiac arrest. WebAbstract Introduction: Danon disease is an extremely rare X-linked dominant disorder characterized by progressive cardiomyopathy, muscle weakness, and mild mental retardation. Most cases harbor nonsense, frameshift, or splice-site mutations in LAMP2 that result in lysosome-associated membrane protein-2 (LAMP-2) deficiency and lysosomal …
Multisystemic lamp-2 defect in danon disease
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WebDanon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy. Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency … Web1 ian. 2001 · LAMP-2 is one of the proteins of the lysosomal membrane 6. and the deficiency is caused by mutations in the coding sequence of the gene. Interestingly, that …
WebM.P.4.11 Extension of the clinical spectrum of Danon’s disease. A novel missense mutation in the splice variant B of the LAMP2 gene leads to myopathy, with mild cardiac abnormalities, retinopathy and no evident mental retardation Web1 iul. 2007 · The discovery of LAMP-2 deficiency in Danon disease ushered a new group of lysosomal diseases, those due to defects in lysosomal structural proteins rather than …
Web24 nov. 2024 · Specific neurologic symptoms Male patients with Danon disease have weakness of the proximal extremities and neck muscles in the pattern of a limb-girdle muscular dystrophy. The weakness slowly... Webmembrane protein 2 (LAMP-2) were shown to cause a LAMP-2 deficiency in patients with Danon disease.LAMP-2 deficient mice manifest a similar vacuolar cardioskeletal …
WebTo investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of 9 unrelated patients with …
WebLAMP2. LAMP2 mutations produce the multisystemic disorder, Danon disease, in which neurologic, skeletal muscle, and hepatic involvement occur with cardiomyopathy. From: … chevy for sale in perth waWebNormal Function The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials. chevy for sale on facebookWebKeywords: Danon disease, Cardiomyopathy, LAMP2, Mutation, NGS Background DD is a rare x-linked dominant multisystemic disorder with clinical manifestations of severe cardiomyopathy, skeletal myopathy, and mental retardation. It was first de-scribed in 1981 [1], and the pathogenic defect of LAMP-2 was identified 20years later [2]. DD was ... chevy for sale houstonWeb1 mai 2024 · Danon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, … chevy forteWeb1 iun. 2016 · ABSTRACT Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency of lysosome-associated membrane protein 2 (LAMP-2). Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems. goodwill cdl programWebLAMP-2 is required for the maturation of autophagosomes by fusion with lysosomes; therefore, LAMP-2 deficiency leads to a failure in macroautophagy. There are three … chevy fort saskWebDownload Table Previous Reports of LAMP2 Mutations in Danon Disease from publication: Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With … chevy fort wayne