AKT1, AKT2, AKT3, ARFIP2, CASP3, CASP8, CREBBP, DCTN1, DLG4, GNA13, GNAI1, GNAI2, GNAI3, GNAQ, GNAS, GNB1, GNB3, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRINA, GRM5, HAP1, HDAC1, HDAC2, HDAC3, HDAC4, HDAC5, HDAC6, HDAC7, HDAC8, HDAC9, HIP1, HTT, IFT57, IGF1, IGF1R, ITPR1, ITPR2, ITPR3, NCOR1, NCOR2, PDPK1, PIK3C2A, PIK3...C2B, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3R1, PIK3R2, PLCB1, PLCB2, PLCB3, PLCB4, PLCD1, PLCD4, PLCE1, PLCG1, PLCG2, PRKCA, PRKCB, PRKCD, PRKCE, PRKCG, PRKCI, PRKCQ, PRKCZ, PRKD1, PSMA3, PSMA6, PSMB5, PSMB8, PSMB9, PSMC2, PSMC3, PSMC4, PSMC5, PSMD4, RCOR1, REST, SGK1, SIN3A, SP1, TAF4, TP53, UBB, UBC, UBD
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Huntington's disease, also known as Huntington Chorea, is a dominantly inherited neurodegenerative disorder featuring progressively worsening chorea, psychiatric disturbances and cognitive impairment due to neuronal cell loss in the basal ganglia and the ...cerebral cortex. It affects about one in 10,000 individuals and is transmitted in an autosomal dominant fashion. George Huntington, an American physician, first documented Huntington's in 1872. Huntington's disease is caused by an abnormal polyglutamine extension of a 350-kDa protein named Huntingtin. The IT15 or Htt (Huntingtin) gene responsible for the disease, located on chromosome 4, enables the synthesis of the HD (Huntingtin) protein. Large polyglutamine repeats in the Huntingtin protein are the genetic defect responsible for this condition, caused by expansion of a polymorphic CAG trinucleotide repeats in the gene. The CAG repeat is polymorphic in the normal population, with a length of 8-39 repeats, but Huntington's disease patients have 36-121 repeats. The polyglutamine repeat makes Huntingtin protein insoluble and triggers the formation of protein aggregates.
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