A new variant of the gene-editing CRISPR/Cas9 system is safer and more specific than versions previously used in early research towards a treatment for Huntington's disease, shows research published today in Frontiers in ...
Feb 26, 2018
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A new scientific study reveals one way to stop proteins from triggering an energy failure inside nerve cells during Huntington's disease. Huntington's disease is an inherited genetic disorder caused by mutations in the gene ...
Sep 13, 2016
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A new light-based technique for measuring levels of the toxic protein that causes Huntington's disease (HD) has been used to demonstrate that the protein builds up gradually in blood cells. Published today in the Journal ...
Sep 17, 2012
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We've known for years that the Huntingtin protein (Htt) is responsible for Huntington's disease, a neurodegenerative disorder that diminishes a person's mental and physical abilities.
Oct 16, 2015
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Scientists from the Florida campus of The Scripps Research Institute (TSRI) have uncovered a major contributor to Huntington's disease, a devastating progressive neurological condition that produces involuntary movements, ...
Oct 28, 2014
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Huntington's disease is a genetic neurodegenerative disorder caused by mutations in the protein huntingtin and characterized by involuntary dance-like movements, severe behavioral changes and cognitive impairment. That neuronal ...
Apr 13, 2021
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Alzheimer's, Huntington's, Parkinson's. Names forever linked to what they represent: diseases that ravage the brain's neurons and leave entire regions to wither and die. These and other so-called neurodegenerative diseases ...
Jul 21, 2013
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A new study describes how hyperactivation of AMP-activated protein kinase (AMPK) promotes neurodegeneration in Huntington's disease (HD). The article appears online on July 18, 2011, in The Journal of Cell Biology.
Jul 18, 2011
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A team of researchers at the UC Davis Institute for Regenerative Cures has developed a technique for using stem cells to deliver therapy that specifically targets the genetic abnormality found in Huntington's disease, a hereditary ...
Jan 19, 2012
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(Medical Xpress)—Scientists at the University of Pittsburgh School of Medicine have identified for the first time a key molecular mechanism by which the abnormal protein found in Huntington's disease can cause brain cell ...
May 19, 2014
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More reference expression data
The Huntingtin gene, also called HTT or HD (Huntington disease) gene, or the IT15 ("interesting transcript 15") gene codes for a 348 kDa protein called the huntingtin protein.
It is variable in its structure as there are many polymorphisms of the gene which can lead to variable numbers of glutamine residues present in the protein. In its wild-type (normal) form, it contains 6-35 glutamine residues, however, in individuals affected by Huntington's Disease (an autosomal dominant genetic disorder), it contains greater than 36 glutamine residues (highest reported repeat length is about 250). It's commonly used name is derived from this disease, previously the IT15 label was commonly used. Huntingtin has a predicted mass about 350 kDa, however, this varies and is largely dependent on the number of glutamine residues in the protein. Normal huntingtin is generally accepted to be 3144 amino acids in size.
The exact function of this protein is not known, but it plays an important role in nerve cells. Within cells, huntingtin may be involved in signaling, transporting materials, binding proteins and other structures, and protecting against programmed cell death (apoptosis). The huntingtin protein is required for normal development before birth. It is expressed in many tissues in the body, with the highest levels of expression seen in the brain.
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