Early onset cardiomyopathy in females with Danon disease

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Fältnamn	Indikatorer	Metadata
000		04401naa a2200517 4500
001		oai:gup.ub.gu.se/219459
003		SwePub
008		240528s2015 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://gup.ub.gu.se/publication/2194592 URI
024	7	a https://doi.org/10.1016/j.nmd.2015.03.0052 DOI
040		a (SwePub)gu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Oldfors Hedberg, Carola,d 1969u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology4 aut0 (Swepub:gu)xnordc
245	1 0	a Early onset cardiomyopathy in females with Danon disease
264	1	b Elsevier BV,c 2015
520		a Danon disease is caused by mutations in the lysosome-associated membrane protein-2 gene, LAMP2, located on the X chromosome. Female carriers with LAMP2 mutations most often present with late onset cardiomyopathy and slow disease progress; however, there are unusual cases that emerge early and show a more severe disease course. We investigated the explanted heart and skeletal muscle biopsies in two girls, aged ten and thirteen years, who underwent cardiac transplantation because of hypertrophic cardiomyopathy secondary to LAMP2 mutations and a 41-year old female with late-onset familial LAMP2 cardiomyopathy with more typical clinical phenotype. The two girls in contrast had clinical features that mimicked severe primary hypertrophic cardiomyopathy caused by mutations in genes encoding sarcomeric proteins. Immunohistochemistry in cardiac muscles showed a remarkable pattern with lack of LAMP2 protein in large regions including thousands of cardiomyocytes that also showed myocyte hypertrophy, lysosomial enlargement and disarray. In other equally large regions there were preserved LAMP2 expression and nearly normal histology. The skeletal muscle biopsy revealed no pathological changes. An uneven distribution of LAMP2 protein may cause deleterious effects depending on which regions of the myocardium are lacking LAMP2 protein in spite of an overall moderate reduction of LAMP2 protein. This may be a more common mechanism behind early aggressive disease in females than an overall skewed X-chromosome inactivation in the tissue. (C) 2015 Elsevier B.V. All rights reserved.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Klinisk laboratoriemedicin0 (SwePub)302232 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Clinical Laboratory Medicine0 (SwePub)302232 hsv//eng
653		a Cardiomyopathy
653		a Danon disease
653		a LAMP2
653		a X-chromosome inactivation
653		a Female carriers
653		a X-CHROMOSOME INACTIVATION
653		a HYPERTROPHIC CARDIOMYOPATHY
653		a GENETIC-CHARACTERIZATION
653		a MANIFESTING CARRIERS
653		a MUTATION
653		a EXPRESSION
653		a FEATURES
653		a HEART
653		a Clinical Neurology
653		a Neurosciences
700	1	a Máthé, Gyöngyvér4 aut
700	1	a Thomson, K.4 aut
700	1	a Tulinius, Mar,d 1953u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xtulim
700	1	a Karason, Kristjan,d 1962u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine4 aut0 (Swepub:gu)xkarkr
700	1	a Östman-Smith, Ingegerd,d 1947u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xostin
700	1	a Oldfors, Anders,d 1951u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology4 aut0 (Swepub:gu)xoland
710	2	a Göteborgs universitetb Institutionen för biomedicin, avdelningen för patologi4 org
773	0	t Neuromuscular Disordersd : Elsevier BVg 25:6, s. 493-501q 25:6<493-501x 0960-8966
856	4 8	u https://gup.ub.gu.se/publication/219459
856	4 8	u https://doi.org/10.1016/j.nmd.2015.03.005

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