Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Book Chapter Book Chapter Faculty Publications- Book Chapter Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Importance of Genetic Model in Huntingtons Disease Description An account of the resource Huntingtons disease (HD) is the first defect-mapped autosomal-dominant, progressive neurodegenerative disorder with a distinct phenotype found in 1983, which contributed to the concept of human genome project. Thus, the search for genetic defects pioneered various mapping and gene study technological prototypes that culminated in identification of distinct disorders. Huntingtons disease has many symptoms, including chorea and dystonia, incoordination, cognitive decline and dementia, and behavioral difficulties. This disease can manifest any time over the age of 30 years, with the first sign and symptom being behavioral changes, which might include lack of emotions, periods of aggression, excitement, and anger. HD duration varies, ranging from 10 to 25 years or more depending on the individual. It is caused by a single gene defect on chromosome number 4, wherein a person requires only a single copy of the defected gene to show the symptoms; that is, a person with parent with the HD gene has a 50% chance of suffering. The disease becomes prominent in a human being as a result of mutations in a gene called Huntington that is located on the p arm (short arm) of chromosome 4 (4p 16.3). This chapter discusses the genetic model of Huntingtons disease and its importance. An increase in the normal number of repeat CAG (cytosine, adenine, and guanine) segments, (i.e. &gt; 35 CAG) is seen in the Huntington (HTT) mutation that causes the disease. The severity of the disease depends on the sized expansion (i.e. increasing CAG repeats will accelerate the age of onset of the disease). Continuing studies of genetic modifiers-genes whose natural polymorphic variation contribute to the alteration and development of the D gene-offers to open new gateways for early diagnosis by unlocking the biochemical changes that occur years before diagnosis, thereby providing validated target protein and pathways for rational therapeutic interventions. This is also added as a section in this chapter. 2025 selection and editorial matter, Sachchida Nand Rai, Sandeep Singh, Santosh Kumar Singh. Creator An entity primarily responsible for making the resource Bajaj M.; Palan D.; Gandhi M. Source A related resource from which the described resource is derived Neurodegenerative Diseases: Translational Models, Mechanisms, and Therapeutics, pp. 109-119. Publisher An entity responsible for making the resource available CRC Press Date A point or period of time associated with an event in the lifecycle of the resource 2024-01-01 Identifier An unambiguous reference to the resource within a given context <a href="https://doi.org/10.1201/9781032620442-9" target="_blank" rel="noreferrer noopener">https://doi.org/10.1201/9781032620442-9</a> <br /><br /><a href="https://www.scopus.com/inward/record.uri?eid=2-s2.0-85210653482&amp;doi=10.1201%2F9781032620442-9&amp;partnerID=40&amp;md5=bf318504ed61ee45c2185f3922bcde8a" target="_blank" rel="noreferrer noopener">https://www.scopus.com/inward/record.uri?eid=2-s2.0-85210653482&amp;doi=10.1201%2f9781032620442-9&amp;partnerID=40&amp;md5=bf318504ed61ee45c2185f3922bcde8a</a> Rights Information about rights held in and over the resource Restricted Access Relation A related resource ISBN: 978-104016012-1; 978-103261324-6 Format The file format, physical medium, or dimensions of the resource Online Language A language of the resource English Type The nature or genre of the resource Book chapter Coverage The spatial or temporal topic of the resource, the spatial applicability of the resource, or the jurisdiction under which the resource is relevant Bajaj M., School of Innovation in Biodesign, Translational Health Science and Technology Institute, Faridabad, India; Palan D., School of Innovation in Biodesign, Translational Health Science and Technology Institute, Faridabad, India; Gandhi M., School of Innovation in Biodesign, Translational Health Science and Technology Institute, Faridabad, India, Department of Chemistry, CHRIST (Deemed to be University), Bengaluru, India