Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

被引:22
作者
Pasanisi, Maria Barbara [1 ]
Missaglia, Sara [2 ]
Cassandrini, Denise [3 ]
Salerno, Franco [1 ]
Farina, Stefania [4 ]
Andreini, Daniele [4 ,5 ]
Agostoni, Piergiuseppe [4 ,5 ]
Morandi, Lucia [1 ]
Mora, Marina [1 ]
Tavian, Daniela [2 ]
机构
[1] Fdn IRCCS Ist Neurol Carlo Besta, Neuromuscular Dis & Neuroimmunol, Milan, Italy
[2] Univ Cattolica Sacro Cuore, CRIBENS, Lab Cellular Biochem & Mol Biol, Largo Gemelli 1, I-20123 Milan, Italy
[3] IRCCS Stella Maris, Mol Med, Pisa, Italy
[4] IRCCS, Ctr Cardiol Monzino, Milan, Italy
[5] Univ Milan, Dept Clin & Community Sci, Milan, Italy
关键词
Neutral lipid storage disease; Myopathy; Cardiomyopathy; Triacylglycerol; Lipid droplet; PNPLA2/ATGL; LIPID STORAGE DISEASE; DEPOSIT CARDIOMYOVASCULOPATHY; MISSENSE MUTATIONS; MYOPATHY; PHENOTYPE;
D O I
10.1016/j.ijcard.2016.01.137
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:165 / 167
页数:3
相关论文
共 8 条
[1]   Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy [J].
Campagna, Filomena ;
Nanni, Luisa ;
Quagliarini, Fabiana ;
Pennisi, Elena ;
Michailidis, Constantine ;
Pierelli, Francesco ;
Bruno, Claudio ;
Casali, Carlo ;
DiMauro, Salvatore ;
Arca, Marcello .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2008, 377 (03) :843-846
[2]   The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy [J].
Fischer, Judith ;
Lefevre, Caroline ;
Morava, Eva ;
Mussini, Jean-Marie ;
Laforet, Pascal ;
Negre-Salvayre, Anne ;
Lathrop, Mark ;
Salvayre, Robert .
NATURE GENETICS, 2007, 39 (01) :28-30
[3]   Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase [J].
Higashi, Masahiro ;
Hirano, Ken-ichi ;
Kobayashi, Kazuhiro ;
Ikeda, Yoshihiko ;
Issiki, Ami ;
Otsuka, Tetsuo ;
Suzuki, Akira ;
Yamaguchi, Satoshi ;
Zaima, Nobuhiro ;
Hamada, Seiki ;
Hanada, Hironori ;
Suzuki, Chieko ;
Nakamura, Hiroshi ;
Nagasaka, Hironori ;
Miyata, Toshiyuki ;
Miyamoto, Yoshihiro ;
Kobayashi, Kunihisa ;
Naito, Hiroaki ;
Toda, Tatsushi .
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2015, 192 :30-32
[4]   Triglyceride Deposit Cardiomyovasculopathy [J].
Hirano, Ken-ichi ;
Ikeda, Yoshihiko ;
Zaima, Nobuhiro ;
Sakata, Yasuhiko ;
Matsumiya, Goro .
NEW ENGLAND JOURNAL OF MEDICINE, 2008, 359 (22) :2396-2398
[5]   Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy [J].
Hirano, Ken-ichi ;
Tanaka, Tatsuya ;
Ikeda, Yoshihiko ;
Yamaguchi, Satoshi ;
Zaima, Nobuhiro ;
Kobayashi, Kazuhiro ;
Suzuki, Akira ;
Sakata, Yasuhiko ;
Sakata, Yasushi ;
Kobayashi, Kunihisa ;
Toda, Tatsushi ;
Fukushima, Norihide ;
Ishibashi-Ueda, Hatsue ;
Tavian, Daniela ;
Nagasaka, Hironori ;
Hui, Shu-Ping ;
Chiba, Hitoshi ;
Sawa, Yoshiki ;
Hori, Masatsugu .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2014, 443 (02) :574-579
[6]   Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings [J].
Missaglia, Sara ;
Tasca, Elisabetta ;
Angelini, Corrado ;
Moro, Laura ;
Tavian, Daniela .
MOLECULAR GENETICS AND METABOLISM, 2015, 115 (2-3) :110-117
[7]   The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene [J].
Reilich, Peter ;
Horvath, Rita ;
Krause, Sabine ;
Schramm, Nicolai ;
Turnbull, Doug M. ;
Trenell, Michael ;
Hollingsworth, Kieren G. ;
Gorman, Grainne S. ;
Hans, Volkmar H. ;
Reimann, Jens ;
MacMillan, Andree ;
Turner, Lesley ;
Schollen, Annette ;
Witte, Gregor ;
Czermin, Birgit ;
Holinski-Feder, Elke ;
Walter, Maggie C. ;
Schoser, Benedikt ;
Lochmueller, Hanns .
JOURNAL OF NEUROLOGY, 2011, 258 (11) :1987-1997
[8]   Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function [J].
Tavian, Daniela ;
Missaglia, Sara ;
Redaelli, Chiara ;
Pennisi, Elena M. ;
Invernici, Gloria ;
Wessalowski, Ruediger ;
Maiwald, Robert ;
Arca, Marcello ;
Coleman, Rosalind A. .
HUMAN MOLECULAR GENETICS, 2012, 21 (24) :5318-5328