LAMP2 shines a light on cardiomyopathy in an athlete
نویسندگان
چکیده
Sophie Martin, MBBS, Jodie Ingles, BBiomedSci, PhD, MPH, Imre Hunyor, MBBS, DPhil, Richard D. Bagnall, BSc, PhD, Rajesh Puranik, MBBS, PhD, Christopher Semsarian, MBBS, PhD, MPH, FHRS From the Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia, Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia, and Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
منابع مشابه
A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China.
Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by otherwise unexplained left ventricular (LV) hypertrophy, and caused by a multitude of mutations in genes encoding proteins of the cardiac sarcomere. 3 Notably, HCM is heterogeneous in terms of phenotypic expression, clinical presentation and course, as well as management strategies, i.e. with severe dise...
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BACKGROUND Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might ...
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LAMP1 and LAMP2 proteins are highly abundant, ubiquitous, mammalian proteins that line the lysosome limiting membrane, and protect it from lysosomal hydrolase action. LAMP2 deficiency causes Danon's disease, an X-linked hypertrophic cardiomyopathy. LAMP2 is needed for chaperone-mediated autophagy, and its expression improves tissue function in models of aging. We show here that human LAMP1 and ...
متن کاملDanon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
BACKGROUND Some patients with hypertrophic cardiomyopathy (HCM) or left ventricular hypertrophy also present with skeletal myopathy and Wolff-Parkinson-White (WPW) syndrome; mutations in the gene encoding the lysosome-associated protein-2 (LAMP-2) have been identified in these patients, suggesting that some of these patients have Danon disease. In this study we investigated the frequency of LAM...
متن کاملMultisystemic LAMP-2 defect in Danon disease
Danon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. To 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 hypertrophic card...
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