Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Ichizo Nishino (), Jin Fu, Kurenai Tanji, Takeshi Yamada, Sadatomo Shimojo, Tateo Koori, Marina Mora, Jack E. Riggs, Shin J. Oh, Yasutoshi Koga, Carolyn M. Sue, Ayaka Yamamoto, Nobuyuki Murakami, Sara Shanske, Edward Byrne, Eduardo Bonilla, Ikuya Nonaka, Salvatore DiMauro and Michio Hirano
Additional contact information
Ichizo Nishino: Columbia University
Jin Fu: Columbia University
Kurenai Tanji: Columbia University
Takeshi Yamada: Kyushu University 3-1-1 Maidashi, Higashi-ku
Sadatomo Shimojo: Department of Internal Medicine Saint Marianna University School of Medicine
Tateo Koori: Yokohama Rosai Hospital
Marina Mora: Department of Neuromuscular Diseases National Neurological Institute “C. Besta”
Jack E. Riggs: West Virginia University, PO Box 9180
Shin J. Oh: University of Alabama at Birmingham, UAB Station
Yasutoshi Koga: Kurume University, 67 Asahi-machi, Kurume
Carolyn M. Sue: Columbia University
Ayaka Yamamoto: National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira
Nobuyuki Murakami: National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira
Sara Shanske: Columbia University
Edward Byrne: Department of Clinical Neuroscience St. Vincents Hospital
Eduardo Bonilla: Columbia University
Ikuya Nonaka: National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira
Salvatore DiMauro: Columbia University
Michio Hirano: Columbia University

Nature, 2000, vol. 406, issue 6798, 906-910

Abstract: Abstract “Lysosomal glycogen storage disease with normal acid maltase”, which was originally described by Danon et al.1, is characterized clinically by cardiomyopathy, myopathy and variable mental retardation. The pathological hallmark of the disease is intracytoplasmic vacuoles containing autophagic material and glycogen in skeletal and cardiac muscle cells. Sarcolemmal proteins and basal lamina are associated with the vacuolar membranes2,3. Here we report ten unrelated patients, including one of the patients from the original case report1, who have primary deficiencies of LAMP-2, a principal lysosomal membrane protein. From these results and the finding that LAMP-2-deficient mice manifest a similar vacuolar cardioskeletal myopathy, we conclude that primary LAMP-2 deficiency is the cause of Danon disease4. To our knowledge this is the first example of human cardiopathy–myopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein.

Date: 2000
References: Add references at CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.nature.com/articles/35022604 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:406:y:2000:i:6798:d:10.1038_35022604

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/35022604

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().