huntingtin


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huntingtin

(hŭn'ting-tin),
Cytoplasmic protein, found in fetal and adult peripheral tissue; function remains unclear. Of approximately 3000 amino-acid residues, it is elongated by polyglutamate residues of various lengths in Huntington disease (q.v.) and other neuropathies.
[Huntington + -in]

huntingtin

A protein encoded by HTT on chromosome 4p16.3, which is widely expressed in tissues and thought to play a role in micotubule-mediated transport or vesicle function. HTT mutations are intimately linked to Huntington’s disease.

Huntingtin

A protein of unknown function encoded by the HD gene. The repeated CAG sequence in a defective HD gene causes the body to produce an abnormal form of huntingtin. It is not yet known why the abnormal form of huntingtin affects only certain regions of the brain.
Mentioned in: Huntington Disease
References in periodicals archive ?
A cardinal feature of Huntington's disease - a fatal genetic disease that typically affects patients in midlife and causes progressive death of specific areas of the brain - is the aggregation of mutant huntingtin protein in cells.
"For the first time, we have been able to successfully deliver inhibitory RNA sequences from stem cells directly into neurons, significantly decreasing the synthesis of the abnormal huntingtin protein," said Jan A.
A protein called Rhes may goad the protein huntingtin into killing brain cells in the striatum (SN: 7/4/09, p.
The company expects the topline clinical data will include a summary of clinical safety results, the degree of mutant huntingtin protein lowering in cerebrospinal fluid and the ratio of total huntingtin versus mutant huntingtin protein in CSF to assess wild-type huntingtin protein.
IONIS-HTTRx is designed to treat patients with HD and is the first and only drug to demonstrate reduction of neurotoxic mutant huntingtin protein, the underlying cause of HD, in patients.
The association noted above between MNRR1 and huntingtin, of MNRR1 and cell migration [29], and of huntingtin with microtubules [63], suggests that MNRR1 could be involved in neuronal migration.
HD is a debilitating neurodegenerative disease in which patients carry a mutation in the Huntingtin (mHtt) protein [92, 93].
Caused by a mutation in the gene for a protein called huntingtin, the disease damages brain cells so that individuals with HD progressively lose their ability to walk, talk and reason.
"For the first time, wc have been able to successfully deliver inhibitory RNA sequences from stem cells directly into neurons, significantly decreasing the synthesis of the abnormal huntingtin protein," said Jan A.
Under the terms of the new collaboration, Isis will receive funding from CHDI to identify and conduct IND-enabling studies on an antisense drug targeting the huntingtin gene.
Scientists identified a mutant form of the protein huntingtin as the culprit in Huntington's disease in 1993.
An especially intriguing finding is the presence of intranuclear inclusion bodies, consisting of amyloid-like fibrils that contain mutant huntingtin, ubiquitin, synuclein, and other proteins (15,16).

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