Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future.

Translational Research : the Journal of Laboratory and Clinical Medicine
Suzan BoutaryLiliane Massaad-Massade

Abstract

Charcot-Marie-Tooth (CMT) disease is the most frequent inherited neuropathy, affecting 1/1500 to 1/10000. CMT1A represents 60%-70% of all CMT and is caused by a duplication on chromosome 17p11.2 leading to an overexpression of the Peripheral Myelin Protein 22 (PMP22). PMP22 gene is under tight regulation and small changes in its expression influences myelination and affect motor and sensory functions. To date, CMT1A treatment is symptomatic and classic pharmacological options have been disappointing. Here, we review the past, present, and future treatment options for CMT1A, with a special emphasis on the highly promising potential of PMP22-targeted small interfering RNA and antisense oligonucleotides.

References

May 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·U SuterE M Shooter
Apr 1, 1992·The Journal of Cell Biology·G J SnipesE M Shooter
Jun 1, 1990·Molecular and Cellular Biology·G ManfiolettiC Schneider
Feb 1, 1995·Journal of Neuroscience Research·U Suter, G J Snipes
Jun 9, 1995·Science·H L KoenigE E Baulieu
May 1, 1996·Neuron·M SeredaK A Nave
Jun 1, 1996·Annals of Neurology·J M VallatA Brice
Jul 9, 1999·Molecular Biology of the Cell·C BrancoliniC Schneider
Aug 17, 1999·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·J F RobertsonS Thorpe
Mar 23, 2000·Progress in Neurobiology·B GarbayC Cassagne
Sep 26, 2000·Journal of Neuroscience Research·V TaylorU Suter
Dec 26, 2001·Proceedings of the National Academy of Sciences of the United States of America·Andreas R ToblerEric M Shooter
Jun 16, 2006·Neuromolecular Medicine·Kleopas A Kleopa, Steven S Scherer
Jun 16, 2006·Neuromolecular Medicine·M W Sereda, K-A Nave
Jun 30, 2006·Neuromuscular Disorders : NMD·Jaume ColomerLuba Kalaydjieva
Jun 30, 2006·The International Journal of Biochemistry & Cell Biology·Kanav Bhatheja, Jeffrey Field
Feb 17, 2007·Neuromuscular Disorders : NMD·Ferdinand KayaMichel Fontés
Jan 22, 2008·Molecular and Cellular Neurosciences·Valerio MagnaghiBernhard Bettler
Jan 30, 2008·Neurology·M E ShyM P McDermott
Feb 26, 2009·Molecular Therapy : the Journal of the American Society of Gene Therapy·Song LiuJean-Michel Heard
May 19, 2009·Brain : a Journal of Neurology·Istvan KatonaJun Li
Jul 10, 2009·The Cochrane Database of Systematic Reviews·Catherine SackleyThomas Hoppitt
Aug 15, 2009·Current Opinion in Neurology·Davide PareysonEttore Salsano
Jan 9, 2010·Annual Review of Pharmacology and Toxicology·C Frank Bennett, Eric E Swayze
Jun 1, 2006·Journal of Clinical Neurology·Jung-Hwa Lee, Byung-Ok Choi
Apr 14, 2011·Journal of Neuropathology and Experimental Neurology·Camiel VerhammeIvo N van Schaik
Apr 27, 2011·Reproductive Biology and Endocrinology : RB&E·Rajiv G RaoMadhuri Wadehra

❮ Previous
Next ❯

Citations

Dec 18, 2020·Frontiers in Pediatrics·Marina Flotats-Bastardas, Andreas Hahn
Jul 19, 2021·Human Molecular Genetics·Cristina Nuevo-TapiolesJosé M Cuezva

❮ Previous
Next ❯

Related Concepts

Related Feeds

Antisense Oligonucleotides: ND

This feed focuses on antisense oligonucleotide therapies such as Inotersen, Nusinursen, and Patisiran, in neurodegenerative diseases including amyotrophic lateral sclerosis.

Brain developing: Influences & Outcomes

This feed focuses on influences that affect the developing brain including genetics, fetal development, prenatal care, and gene-environment interactions. Here is the latest research in this field.