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

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 membranes(2,3). Here we report ten unrelated patients, including one of the patients from the original case report(1), 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 disease(4). To our knowledge this is the first example of human cardiopathymyopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein. Columbia Univ, Dept Neurol, New York, NY 10032 USA; Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA; Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, Tokyo 1878502, Japan; Kyushu Univ, Dept Neurol, Higashi Ku, Fukuoka 8128582, Japan; St Marianna Univ, Sch Med, Dept Internal Med, Miyamae Ku, Kawasaki, Kanagawa 2168512, Japan; Yokohama Rosai Hosp, Dept Pediat, Kouhoku Ku, Kanagawa 2220036, Japan; Natl Neurol Inst C Besta, Dept Neuromuscular Dis, I-20133 Milan, Italy; W Virginia Univ, Dept Neurol, Morgantown, WV 26506 USA; Univ Alabama, Dept Neurol, Birmingham, AL 35294 USA; Kurume Univ, Dept Pediat & Child Hlth, Fukuoka 8300011, Japan; St Vincents Hosp, Dept Clin Neurosci, Fitzroy, Vic 3065, Australia Columbia University; Columbia University; National Center for Neurology & Psychiatry - Japan; Kyushu University; Saint Marianna University; Yokohama Rosai Hospital; Fondazione IRCCS Istituto Neurologico Carlo Besta; West Virginia University; University of Alabama System; University of Alabama Birmingham; Kurume University; St Vincent's Hospital Melbourne; NSW Health; St Vincents Hospital Sydney Nishino, I (corresponding author), Columbia Univ, Dept Neurol, 630 W 168th St,P&S 4-443, New York, NY 10032 USA. 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