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Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12710/12056
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dc.contributor.authorAmoasii, Anastasia-
dc.date.accessioned2020-10-09T11:37:33Z-
dc.date.available2020-10-09T11:37:33Z-
dc.date.issued2020-
dc.identifier.citationAMOASII, Anastasia. Genetic aspects of the huntington disease. In: MedEspera: the 8th Internat. Medical Congress for Students and Young Doctors: abstract book. Chișinău: S. n., 2020, p. 32.en_US
dc.identifier.urihttps://medespera.asr.md/wp-content/uploads/ABSTRACT-BOOK.pdf-
dc.identifier.urihttp://repository.usmf.md/handle/20.500.12710/12056-
dc.descriptionDepartment of Molecular Biology and Human Genetics Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova, The 8th International Medical Congress for Students and Young Doctors, September 24-26, 2020en_US
dc.description.abstractBackground. Huntington disease (HD) is an incurable, adult-onset, autosomal dominant inherited disorder associated with cell loss within a specific subset of neurons in the basal ganglia and cortex. HD is named after George Huntington, the physician who described it as hereditary chorea in 1872. Characteristic features of HD include involuntary movements, dementia, and behavioral changes. Case report. Purpose and objectives: This study focuses on the variability of the HTT gene expression and its correlation with the onset of the disease. It also outlines the genetic aspects of the disease: types of inheritance, anticipation and the frequency of new mutations in the population. Etiology: The selective neuronal dysfunction and subsequent loss of neurons in the striatum, cerebral cortex, and other parts of the brain can explain the clinical picture seen in cases of HD. Several mechanisms of neuronal cell death have been proposed for HD, including excitotoxicity, oxidative stress, impaired energy metabolism, and apoptosis. Treatment: In a study published recently in the New England Journal of Medicine, researchers from UBC and their colleagues have demonstrated for the first time that the drug IONIS-HTTRX (now known as RO7234292) successfully lowered the levels of the mutant huntingtin protein - the toxic protein that causes Huntington disease -- in the central nervous system of patients. The treatment is designed to silence the gene. On the trial, 46 patients had the drug injected into cerebrospinal fluid. The first in-human trial showed the drug was safe, well tolerated by patients and crucially reduced the levels of huntingtin in the brain. Experts say it could be the biggest breakthrough in neurodegenerative diseases for 50 years. Conclusion. Taking into consideration the above description of the new trial treatment of the disease, the studies made in this field could be crucial for the next generations.en_US
dc.language.isoenen_US
dc.publisherMedEsperaen_US
dc.subjectHuntington’s diseaseen_US
dc.subjectanticipationen_US
dc.subjectpenetrationen_US
dc.subjecttreatmenten_US
dc.subjectmutationen_US
dc.titleGenetic aspects of the huntington diseaseen_US
dc.typeArticleen_US
Appears in Collections:MedEspera 2020

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