Huntington's+Disease

Greg Roth  // Name: // Huntington’s Disease

// Root cause // : Autosomal dominant defect within the huntingtin gene on chromosome 4 that leads to too many CAG repeats within the gene, resulting in excessive glutamine in the huntingtin protein.

// Affected cell types: // Neurons in the brain

// History: // First described by Dr. George Huntington in 1872. Has been noted throughout history but wasn’t given an official name until Dr. Huntington described it. Woody Guthrie, the singer of “This Land is Your Land”, was thought to have it in 1912. Also, the drummer for Brooks and Dunn, Trey Gray has been diagnosed with Huntington’s.

// Common Symptoms: // Chorea (uncontrolled movement), emotional problems and instability, a diminished capability to reason, hallucinations, paranoia and psychosis, speech impairment, infections such as pneumonia, and eventually difficulty swallowing. The disease progressively gets worse as you get older, sometimes leading to depression and suicide.

// Standard Treatments: // Dopamine blockers that help with the involuntary movement and abnormal behaviors and also drugs like amantadine and tetrabenazine that also help control involuntary movements. There is currently no cure for Huntington’s Disease.

// Current Research: // Glatiramer acetate has been found to aid in neurotrophic activity in HD induced mice, which could potentially lead to helping humans dealing with HD(8). Also, certain protein blockers have been found to be effective at slowing the effects of the toxic protein aggregates formed by the abnormal huntingtin protein.

// References: // 1) http://hdroster.iu.edu/ 2) http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001775/ 3) http://www.alz.org/dementia/huntingtons-disease-symptoms.asp 4) http://useast.ensembl.org/Homo_sapiens/Location/Overview?db=core;r=4:1-4500000 5) http://ghr.nlm.nih.gov/condition/huntington-disease 6) http://www.rcsb.org/pdb/explore.do?structureId=3iow 7) http://www.news-medical.net/health/Huntingtons-Disease-History.aspx 8) http://www.ncbi.nlm.nih.gov/pubmed/25300334