Effects of bezafibrate treatment in a patient and a carrier with mutations in the pnpla2 gene, causing neutral lipid storage disease with Myopathy

Circulation Research

Volumn 112, Issue 5, 2013, Pages

  Van De Weijer, Tineke ^a   Havekes, Bas ^a   Bilet, Lena ^a   Hoeks, Joris ^a   Sparks, Lauren ^a   Bosma, Madeleen ^a   Paglialunga, Sabina ^a   Jorgensen, Johanna ^a   Janssen, Mirian C H ^b   Schaart, Gert ^a   Sauerwein, Hans ^b   Smeets, Joep L ^c   Wildberger, Joachim ^d   Zechner, Rudolf ^c   Schrauwen Hinderling, Vera B ^a   Hesselink, Matthijs K C ^c   Schrauwen, Patrick ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY   (Netherlands)

^d UNIVERSITY OF GRAZ   (Austria)

Author keywords

ATGL; fibrates; neutral lipid storage disease; PNPLA2

Indexed keywords

BEZAFIBRATE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR; TRIACYLGLYCEROL;

BODY MASS; CONTROLLED STUDY; DISEASE SEVERITY; EDITORIAL; FATTY ACID OXIDATION; FEMALE; GENE; GENE MUTATION; GLUCOSE OXIDATION; HEART FUNCTION; HUMAN; INSULIN SENSITIVITY; LIPIDOSIS; METABOLIC CLEARANCE RATE; MYOPATHY; NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; PNPLA2 GENE; PRIORITY JOURNAL; TREATMENT DURATION; TRIACYLGLYCEROL BLOOD LEVEL; UPREGULATION;

ADULT; ALLELES; BEZAFIBRATE; FATTY ACIDS; FEMALE; HUMANS; HYPOLIPIDEMIC AGENTS; LIPASE; LIPID METABOLISM; LIPID METABOLISM, INBORN ERRORS; MUSCULAR DISEASES; MUTATION; TREATMENT OUTCOME;

EID: 84874759915     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.113.300944     Document Type: Editorial

References (8)

1. Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007;39:28-30.
2. Schweiger M, Lass A, Zimmermann R, Eichmann TO, Zechner R. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab. 2009;297:E289-E296.
3. Haemmerle G, Lass A, Zimmermann R, Gorkiewicz G, Meyer C, Rozman J, Heldmaier G, Maier R, Theussl C, Eder S, Kratky D, Wagner EF, Klingenspor M, Hoefler G, Zechner R. Defective lipolysis and altered energy metabolism in mice lacking adipose triglyceride lipase. Science. 2006;312:734-737.
4. Haemmerle G, Moustafa T, Woelkart G, et al. ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1. Nat Med. 2011;17:1076-1085.
5. DeFronzo RA, Tobin JD, Andres R. Glucose clamp technique: a method for quantifying insulin secretion and resistance. Am J Physiol. 1979;237:E214-E223.
6. Schrauwen-Hinderling VB, Hesselink MK, Meex R, van der Made S, Schär M, Lamb H, Wildberger JE, Glatz J, Snoep G, Kooi ME, Schrauwen P. Improved ejection fraction after exercise training in obesity is accompanied by reduced cardiac lipid content. J Clin Endocrinol Metab. 2010;95:1932-1938.
7. Balasubramanian R, Gerrard J, Dalla Man C, Firbank MJ, Lane A, English PT, Cobelli C, Taylor R. Combination peroxisome proliferatoractivated receptor gamma and alpha agonist treatment in Type 2 diabetes prevents the beneficial pioglitazone effect on liver fat content. Diabet Med. 2010;27:150-156.
8. Cree MG, Newcomer BR, Read LK, Sheffield-Moore M, Paddon- Jones D, Chinkes D, Aarsland A, Wolfe RR. Plasma triglycerides are not related to tissue lipids and insulin sensitivity in elderly following PPAR-alpha agonist treatment. Mech Ageing Dev. 2007;128: 558-565.