Sentences with phrase «of huntingtin protein»

One possible implication of this work is for so - called «gene - silencing» therapies for Huntington's disease, which aim to reduce production of the huntingtin protein, by sticking to its RNA message molecules and telling cells to get rid of them.

We don't yet have a way of scanning patients to measure levels of Huntingtin protein, but it would be very useful and its being worked on.

This study helps us to understand a new possible way in which harmful fragments of the huntingtin protein are generated.

One thing that researchers have noticed is that the brain cells of HD patients and mouse models contain very short versions of the huntingtin protein - only the first five per cent or so.

The trial was designed to test the safety of the drug and whether or not the drug could do what it was designed to do - reduce the production of the huntingtin protein.

Previous work had demonstrated that the levels of the huntingtin protein can be measured in the cerebrospinal fluid.

Changing a specific part of the huntingtin protein prevented the loss of critical brain cells and protected against behavioral symptoms in a mouse model of the disease.

It's important to emphasise that this technique completely shuts off production of the huntingtin protein.

Since the goal of huntingtin lowering therapies like IONIS - HTTRx is to reduce the amount of the huntingtin protein in vulnerable brain cells, in theory this gives us a great way to tell whether the drug is doing what it's meant to do.

The safety data may come first, but information about whether treatment with HTTRx lowered the level of huntingtin protein in the spinal fluid — a much - anticipated «biomarker» outcome — may take a little longer to materialise.

In HD, a repeated sequence of letters in this gene leads to an extra-long form of huntingtin protein that can wreak havoc in brain cells over long periods of time.

In July 2015, the most exciting drug trial so far in Huntington's disease began - one in which an ASO designed to reduce production of huntingtin protein was actually delivered to people with HD.

After three months, there were fewer harmful clumps of huntingtin protein built up in brain cells, and the HD mice had improved somewhat on movement tests.

We simply measure levels of huntingtin protein in the cerebrospinal fluid before and after drug treatment.

It's the extra-long copy of the huntingtin gene that makes neurons sick, because it causes them to produce an extra-long, harmful version of the huntingtin protein.

It turns out that faulty processing of the huntingtin «recipe» produces a short, harmful fragment of the huntingtin protein.

Years ago, they realized that HD was a perfect fit for their technology, because we know that if, in animals, we reduce the levels of the huntingtin protein in the brain, we improve their HD - like symptoms.

An exciting «huntingtin lowering» trial is currently underway using a drug called an antisense oligonucleotide (ASO) to reduce the amount of huntingtin protein in brain cells.

For the first time in history, HD patients are being treated with drugs known to reduce the amount of huntingtin protein in their brain.

A better understanding of the normal role of the huntingtin protein would make developing treatments easier.

One of the most exciting avenues of HD research is huntingtin lowering (also known as gene silencing), which aims to reduce levels of the huntingtin protein in cells.

On the opening day of the biggest ever Huntington's disease therapeutics conference, we heard a lot about studying the complexities of the brain, and the role of the huntingtin protein, still mysterious twenty years after its discovery - but not very much about drugs.

«Huntington's — an inherited and fatal disorder that leads to problems with muscle coordination, cognition and personality — is characterized by the toxic buildup of a mutant form of the huntingtin protein in the brain,» explained Dr. Finkbeiner, who directs the Taube - Koret Center for Neurodegenerative Disease Research at Gladstone.

Researchers were able to measure levels of the Huntingtin protein in the spinal fluid - which they'd previously showed correlated very well with brain levels (which, remember, we can't measure directly).

This leads to the production of an abnormally long version of the huntingtin protein.

Scientists at the Gladstone Institutes discovered that changing a specific part of the huntingtin protein prevented the loss of critical brain cells and protected against behavioral symptoms in a mouse model of the disease.

Mutations of the huntingtin protein (HTT) gene underlie both adult - onset and juvenile forms of Huntington's disease (HD).

Grima also observed this same clumping of Huntingtin protein with RanGAP1 and nuclear pore proteins to the wrong place in the cell in brain tissue and cultured brain cells derived from deceased patients with Huntington's disease.

Scientists have known for some time that the mutated form of the huntingtin protein impairs mitochondria and that this disruption kills brain cells.

In a study published online in Genome Research, researchers developed a novel computational strategy to identify interaction partners of the huntingtin protein and discovered a novel factor that suppresses misfolding and aggregation.

Not exact matches

Last year Cuervo collaborated with Sheng Zhang, a professor at The University of Texas Health Science Center at Houston on experiments showing that huntingtin — the Huntington's disease protein — helps the cell's autophagy system identify what it should eliminate.

It is caused by a single gene abnormality which leads to the production of a mutant form of a protein called huntingtin (mHtt).

Xin Qi, PhD, assistant professor of physiology and biophysics at Case Western Reserve University School of Medicine has been looking for proteins that interact with mutant huntingtin to better understand the initial steps of Huntington's disease progression.

University of California, Irvine neurobiologists Leslie Thompson and Joseph Ochaba with the Departments of Neurobiology & Behavior and Psychiatry & Human Behavior and their colleagues from UCI and from Children's Hospital of Philadelphia have shown that reducing the aberrant accumulation of a particular form of the mutant Huntingtin protein corresponds to improvement in symptoms and neuroinflammation in HD mice.

«Because mitochondrial dysfunction has been proposed to play an important role in the pathogenesis of Huntington's disease,» said Qi, «we investigated the binding proteins of mutant huntingtin on mitochondria.»

Researchers at the Buck Institute have identified and categorized thousands of protein interactions involving huntingtin, the protein responsible for Huntington's disease (HD).

Hughes said Mooney employed sophisticated computational methods which allowed researchers to comprehensively analyze the functions or so - called «jobs» of the proteins and networks and how they might be impacted by the huntingtin mutation.

HD is caused by a mutation in the human HTT gene that results in an abnormal expansion and misfolding of the corresponding huntingtin protein.

Huntington's disease is caused by an expansion of glutamine residues in the huntingtin protein, altering its function and ultimately resulting in toxic aggregation of huntingtin fragments in neurons.

Not long after the HD gene was isolated, studies led by MacDonald, also a co-author of the current investigation, found that a variation in the number of CAG trinucleotide repeats within the HD gene, which codes for a protein called huntingtin, is the primary determinant of the age at which HD symptoms appear, with a greater number of CAG repeats associated with an earlier symptom onset.

«The challenge that remains is if there are many proteins interacting with the huntingtin protein, we can not easily determine which are relevant for disease and which are not,» said Erich Wanker from Max Delbrück Center for Molecular Medicine and corresponding author of the study.

Being able to detect and measure the amount of mutant huntingtin present in the nervous system will be a valuable way of seeing whether the gene - silencing drug is hitting its target and has the intended effect, lowering the amount of disease causing mHTT protein.

In July, Elena Cattaneo and her colleagues at the University of Milan reported that mutant huntingtin affects another key neuron - survival protein called brain - derived neurotrophic factor (BDNF).

The stutters produce long stretches of the amino acid glutamine in the huntingtin protein, and the resulting misshapen protein clumps up within neurons, destroying brain cells.

«We already know from previous studies on the protein huntingtin, which spontaneously forms aggregates and is responsible for the development of the neurodegenerative disorder Huntington's disease, that protein aggregates also bind to essential proteins that have no defects.»

Yano and her colleagues found that the mutated huntingtin protein binds to a group of proteins called TIM23.

At the same point in the disease process, the scientists found no evidence of impairment in liver cells, which also produce the mutated huntingtin protein.

The zinc finger protein sticks to the DNA of the mutant Huntingtin gene and turns off the gene's expression.

The zinc finger protein works by targeting the mutant copies of the Huntingtin gene, repressing its ability to express and create harmful proteins.

The mutant Huntingtin gene is thought to cause toxic levels of protein to aggregate in the brain.