Genetic Modifiers for Neuromuscular Diseases

Journal of Neuromuscular Diseases
Kay-Marie Lamar, Elizabeth M McNally

Abstract

Neuromuscular diseases, which encompass disorders that affect muscle and its innervation, are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation responsible for a given neuromuscular disease. However, the results from genetic testing indicate that neuromuscular disease phenotypes may vary widely, even in individuals with the same primary disease-causing mutation. Clinical variability arises from both genetic and environmental factors. Genetic modifiers can now be identified using candidate gene as well as genomic approaches. The presence of genetic modifiers for neuromuscular disease helps define the clinical outcome and also highlights pathways of potential therapeutic utility. Herein, we will focus on single gene neuromuscular disorders, including muscular dystrophy, spinal muscular atrophy, and amyotrophic lateral sclerosis, and the methods that have been used to identify modifier genes. Animal models have been an invaluable resource for modifier gene discovery and subsequent mechanistic studies. Some modifiers, identified using animal models, have successfully translated to the human counterpart. Furthermore, in a few instances, modifier gene discovery has repetitively uncovered the same pathw...Continue Reading

Citations

Aug 28, 2015·Journal of Human Genetics·Miloš BrkušaninDušanka Savić-Pavićević
Jan 4, 2020·European Journal of Human Genetics : EJHG·Pietro SpitaliAnnemieke Aartsma-Rus
Aug 30, 2014·Human Molecular Genetics·David Pla-MartínCarmen Espinós
Sep 13, 2020·Journal of Applied Genetics·Magdalena Mroczek, Maria Gabriela Sanchez
Jan 26, 2018·Journal of Cardiovascular Development and Disease·Takeshi Tsuda, Kristi K Fitzgerald
Apr 27, 2018·Advanced Healthcare Materials·Alastair KhodabukusNenad Bursac
Oct 6, 2018·Human Molecular Genetics·Andy H VoElizabeth M McNally
Jan 24, 2019·International Journal of Molecular Sciences·Paloma González-SánchezAraceli Del Arco
Oct 15, 2020·Antioxidants·Judith Cantó-SantosGlòria Garrabou

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