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Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).
Baylor College of Medicine (BCM) is a medical school and research center in Houston, Texas, within the Texas Medical Center, the world's largest medical center. BCM is composed of four academic components: the School of Medicine, the Graduate School of Biomedical Sciences; the School of Health Professions, and the National School of Tropical Medicine.
Jean-Martin Charcot was a French neurologist and professor of anatomical pathology. He worked on hypnosis and hysteria, in particular with his hysteria patient Louise Augustine Gleizes. Charcot is known as "the founder of modern neurology", and his name has been associated with at least 15 medical eponyms, including various conditions sometimes referred to as Charcot diseases.
Smith–Magenis Syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals.
Dejerine–Sottas disease, also known as, Dejerine–Sottas neuropathy, Dejerine–Sottas syndrome, progressive hypertrophic interstitial polyneuropathy of childhood, demyelinating polyneuropathy of childhood, and onion bulb neuropathy, is a hereditary neurological disorder characterised by damage to the peripheral nerves, demyelination, and resulting progressive muscle wasting and somatosensory loss. The condition is caused by mutations in a various genes and currently has no known cure.
Myelin protein zero is a single membrane glycoprotein which in humans is encoded by the MPZ gene. P0 is a major structural component of the myelin sheath in the peripheral nervous system (PNS). Myelin protein zero is expressed by Schwann cells and accounts for over 50% of all proteins in the peripheral nervous system, making it the most common protein expressed in the PNS. Mutations in myelin protein zero can cause myelin deficiency and are associated with neuropathies like Charcot–Marie–Tooth disease and Dejerine–Sottas disease.
Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system.
Early growth response protein 2 is a protein that in humans is encoded by the EGR2 gene. EGR2 is a transcription regulatory factor, containing three zinc finger DNA-binding sites, and is highly expressed in a population of migrating neural crest cells. It is later expressed in the neural crest derived cells of the cranial ganglion. The protein encoded by Krox20 contains two cys2his2-type zinc fingers. Krox20 gene expression is restricted to the early hindbrain development. It is evolutionarily conserved in vertebrates, humans, mice, chicks, and zebra fish. In addition, the amino acid sequence and most aspects of the embryonic gene pattern is conserved among vertebrates, further implicating its role in hindbrain development. When the Krox20 is deleted in mice, the protein coding ability of the Krox20 gene is diminished. These mice are unable to survive after birth and exhibit major hindbrain defects. These defects include but are not limited to defects in formation of cranial sensory ganglia, partial fusion of the trigeminal nerve (V) with the facial (VII) and auditory (VII) nerves, the proximal nerve roots coming off of these ganglia were disorganized and intertwined among one another as they entered the brainstem, and there was fusion of the glossopharyngeal (IX) nerve complex.
Glycine—tRNA ligase also known as glycyl–tRNA synthetase is an enzyme that in humans is encoded by the GARS1 gene.
Growth arrest-specific protein 3 (GAS-3), also called peripheral myelin protein 22 (PMP22), is a protein which in humans is encoded by the PMP22 gene.
Lipopolysaccharide-induced tumor necrosis factor-alpha factor is a protein that in humans is encoded by the LITAF gene.
Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.
SH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene. It is believed to be expressed in the Schwann cells that wrap the myelin sheath around nerves.
Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description. PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine.
Robert J. Desnick is an American human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases. His translational research has led to the development of four FDA/EMA approved therapeutics: the enzyme replacement therapy (ERT) and the chaperone therapy for Fabry disease, ERT for Niemann–Pick disease type B, and the RNA Interference Therapy for the Acute Hepatic Porphyrias.
Arthur L. Beaudet is a founder and CEO of Luna Genetics. He is a past professor and chair of molecular and human genetics at Baylor College of Medicine. He was inducted into the Institute of Medicine in 1995, the Society of Scholars in 2008 and into the National Academy of Sciences in 2011.
Hugo J. Bellen is a professor at Baylor College of Medicine and an investigator at the Howard Hughes Medical Institute who studies genetics and neurobiology in the model organism, Drosophila melanogaster, the fruit fly.
Classifications of Charcot–Marie–Tooth disease refers to the types and subtypes of Charcot–Marie–Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. CMT is a result of genetic mutations in a number of genes.
Andrea Ballabio is an Italian scientist and academic professor. He is director of the Telethon Institute of Genetics and Medicine (TIGEM) of Pozzuoli; professor of medical genetics at the Federico II University of Naples and visiting professor of genetics at Baylor College of Medicine in Houston, Texas, US and at the University of Oxford-UK.
Neil Hanchard is a Jamaican physician and scientist who is clinical investigator in the National Human Genome Research Institute (NHGRI), where he leads the Childhood Complex Disease Genomics section. Prior to joining NHGRI, he was an associate professor of molecular and human genetics at the Baylor College of Medicine. He is a fellow of the American College of Medical Genetics and Genomics,. Hanchard's research focuses on the genetics of childhood disease, with an emphasis on diseases impacting global health.
References
- ↑ "James R. Lupski". Science History Institute. Retrieved 2018-09-05.
- ↑ "James R. Lupski, M.D., Ph.D." Baylor College of Medicine. Retrieved 8 May 2011.
- ↑ Lupski, J. R.; Reid, J. G.; Gonzaga-Jauregui, C.; Rio Deiros, D.; Chen, D. C. Y.; Nazareth, L.; Bainbridge, M.; Dinh, H.; Jing, C.; Wheeler, D. A.; McGuire, A. L.; Zhang, F.; Stankiewicz, P.; Halperin, J. J.; Yang, C.; Gehman, C.; Guo, D.; Irikat, R. K.; Tom, W.; Fantin, N. J.; Muzny, D. M.; Gibbs, R. A. (2010). "Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy". New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. PMC 4036802 . PMID 20220177.
- ↑ "Discovery Adds New Twist to Certain Genetic Diseases". Baylor College of Medicine. Archived from the original on 17 March 2012. Retrieved 8 May 2011.
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