Georgirene D Vladutiu1. 1. Departments of Pediatrics, Neurology and Pathology and Anatomical Sciences, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York 14203, USA. gdv@buffalo.edu
Abstract
PURPOSE OF REVIEW: Genetic predisposition to statin myopathy is a rapidly expanding area of investigation. This review summarizes the latest information on genetic risk factors associated with statin-induced myopathy. Genetic determinants involved in both pharmacokinetics of statins and metabolic muscle diseases are discussed. Data are provided on the prevalence of statin use in the United States; incidence of associated myopathy; terminology relating to statin myopathy and genetic susceptibility; and common myths surrounding this disorder. RECENT FINDINGS: Technological advances now make it possible to identify genetic variation in the human genome that reveals disease-causing mutations and single nucleotide polymorphisms associated with disease. More than 30,000 individuals in the United States suffer from severe life-threatening symptoms of statin-induced myopathy that may, in some cases, persist long after the cessation of therapy. Genes of interest include those involved in the pharmacokinetics of the statin response, muscle atrophy, exercise intolerance, pain perception, and mitochondrial energy metabolism. SUMMARY: Genetic analysis for variants and disease-causing mutations relevant to statin myopathy will provide predisposition testing for this and other drug-induced disorders. This testing will become an integral part of personalized medicine that will contribute to the safe and informed use of selected drugs and improved compliance.
PURPOSE OF REVIEW: Genetic predisposition to statin myopathy is a rapidly expanding area of investigation. This review summarizes the latest information on genetic risk factors associated with statin-induced myopathy. Genetic determinants involved in both pharmacokinetics of statins and metabolic muscle diseases are discussed. Data are provided on the prevalence of statin use in the United States; incidence of associated myopathy; terminology relating to statin myopathy and genetic susceptibility; and common myths surrounding this disorder. RECENT FINDINGS: Technological advances now make it possible to identify genetic variation in the human genome that reveals disease-causing mutations and single nucleotide polymorphisms associated with disease. More than 30,000 individuals in the United States suffer from severe life-threatening symptoms of statin-induced myopathy that may, in some cases, persist long after the cessation of therapy. Genes of interest include those involved in the pharmacokinetics of the statin response, muscle atrophy, exercise intolerance, pain perception, and mitochondrial energy metabolism. SUMMARY: Genetic analysis for variants and disease-causing mutations relevant to statin myopathy will provide predisposition testing for this and other drug-induced disorders. This testing will become an integral part of personalized medicine that will contribute to the safe and informed use of selected drugs and improved compliance.
Authors: Sharon J Hirshey Dirksen; Marilyn Green Larach; Henry Rosenberg; Barbara W Brandom; Jerome Parness; Robert Scott Lang; Meera Gangadharan; Tyler Pezalski Journal: Anesth Analg Date: 2011-06-27 Impact factor: 5.108
Authors: Gualberto Ruaño; Andreas Windemuth; Alan H B Wu; John P Kane; Mary J Malloy; Clive R Pullinger; Mohan Kocherla; Kali Bogaard; Bruce R Gordon; Theodore R Holford; Ankur Gupta; Richard L Seip; Paul D Thompson Journal: Atherosclerosis Date: 2011-07-20 Impact factor: 5.162
Authors: Paul J Isackson; Heather M Ochs-Balcom; Changxing Ma; John B Harley; Wendy Peltier; Mark Tarnopolsky; Naganand Sripathi; Robert L Wortmann; Zachary Simmons; Jon D Wilson; Stephen A Smith; Alexandru Barboi; Edward Fine; Alan Baer; Steven Baker; Kenneth Kaufman; Beth Cobb; Jeffrey R Kilpatrick; Georgirene D Vladutiu Journal: Muscle Nerve Date: 2011-08-08 Impact factor: 3.217
Authors: Bas Jm Peters; Olaf H Klungel; Frank L Visseren; Anthonius de Boer; Anke-Hilse Maitland-van der Zee Journal: Genome Med Date: 2009-12-29 Impact factor: 11.117