What does mutated huntingtin do?
Mutant huntingtin protein has been found to impair the transport of BDNF (11, 121). These findings indicate that huntingtin protein promotes BDNF transport, and loss or mutation of huntingtin protein may contribute to deficit of BDNF, which leads to pathogenesis.
How does huntingtin protein cause Huntington’s disease?
Huntington’s disease (HD) is caused by a mutated form of the huntingtin gene, where excessive (more than 36) CAG repeats result in formation of an unstable protein. These expanded repeats lead to production of a huntingtin protein that contains an abnormally long polyglutamine tract at the N-terminus.
What does huntingtin protein do normally?
Normal Function Huntingtin is found in many of the body’s tissues, with the highest levels of activity in the brain. Within cells, this protein may be involved in chemical signaling, transporting materials, attaching (binding) to proteins and other structures, and protecting the cell from self-destruction (apoptosis).
What is the role of the huntingtin protein?
What type of protein is huntingtin?
Huntingtin (htt) is a soluble 3144 amino acid (348 kDa) protein, with the highest levels of expression being found in the CNS and testes. The N-terminal 17 amino acids, or N17 region, has been identified as a critical region that plays a role in htt localization, aggregation, and toxicity.
Can you get Huntington’s without family history?
It’s possible to develop HD even if there are no known family members with the condition. Around 10% of people with HD don’t have a family history. Sometimes, that’s because a parent or grandparent was wrongly diagnosed with another condition like Parkinson’s disease, when in fact they had HD.
Where is huntingtin protein produced?
Huntingtin is expressed ubiquitously throughout the body, and observed at its highest levels in the brain and testes [67-70]. Within the brain, it is found in all neurons, as well as glial cells [67-69, 71-76].
What is huntingtin protein used for?
Huntingtin is found in many of the body’s tissues, with the highest levels of activity in the brain. Within cells, this protein may be involved in chemical signaling, transporting materials, attaching (binding) to proteins and other structures, and protecting the cell from self-destruction (apoptosis).
What is Dimercaprol used to treat?
Dimercaprol. Dimercaprol, also called British anti-Lewisite ( BAL ), is a medication used to treat acute poisoning by arsenic, mercury, gold, and lead. It may also be used for antimony, thallium, or bismuth poisoning, although the evidence for those uses is not very strong. It is given by injection into a muscle.
Is dimercaprol effective in the treatment of cadmium toxicity?
Although treatment with dimercaprol will increase the excretion of cadmium, there is a concomitant increase in renal cadmium concentration, so that its use in case of cadmium toxicity is to be avoided. It does, however, remove inorganic mercury from the kidneys; but is not useful in the treatment of alkylmercury or phenylmercury toxicity.
What makes a successful treatment for Huntington’s disease successful?
Huntington’s Disease: Clinical Experimental Therapeutics Successful treatment of a neurodegenerative disorder depends on three interdependent factors: (1) the “right” treatment candidates; (2) the ability to detect the therapeutic effects in an appropriate clinical population; and (3) clinically meaningful treatment effects.
What is dimdimercaprol (Bal)?
Dimercaprol, also called British anti-Lewisite ( BAL ), is a medication used to treat acute poisoning by arsenic, mercury, gold, and lead. It may also be used for antimony, thallium, or bismuth poisoning, but the evidence for these uses is not very strong.