Sentences with phrase «in huntingtin»

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder resulting from an extended number of CAG repeats in the Huntingtin (Htt) gene, for which no disease - modifying therapy is currently available, and comprises several cognitive and affective symptoms, as well as uncontrolled movement (chorea).

In the huntingtin - lowering trial that is currently underway, the treatment is reversible, and participants are being carefully monitored for safety.

That's much more dramatic than what happens in a huntingtin - lowering treatment trial.

We've known for twenty years now that the cause of Huntington's disease is a mutation in the huntingtin gene.

Two CMBN groups have identified a DNA repair gene that modify somatic and germline CAG trinucleotide repeat instability in the Huntingtin gene.

The genetic basis of Huntington's disease (HD) is the presence of expanded CAG repeats in the huntingtin gene.

Abstract The bulk of interest in the huntingtin protein has centered on the fact that, when mutated, huntingtin causes Huntington's disease (HD), a devastating neurodegenerative disorder.

The expanded CAG sequence in the HD gene results in a huntingtin protein with too many glutamines at the start of it.

The mutation causing HD is an abnormal polyglutamine stretch in huntingtin.

More than 36 CAG repeats in the huntingtin gene will always lead to HD symptoms, if a person lives long enough, and longer CAG repeats tend to produce an earlier age of onset.

We know for sure that the mutation in the huntingtin gene is the ultimate reason why people get HD.

The disease is linked to a mutation in the Huntingtin gene, which causes a protein of the same name to fold up incorrectly like misshapen origami.

In an earlier study, Subramaniam and his colleagues showed that Rhes binds to a series of repeats in the huntingtin protein (named for its association with Huntington's disease), increasing the death of neurons.

Anyone with more than 36 repeats in the huntingtin gene will develop Huntington's disease.

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.

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.

However, it is possible that other more subtle alterations of behavior or memory are present in the huntingtin - deleted mice, he adds.

Not exact matches

Researchers led by Xiao - Jiang Li, MD, PhD and Shihua Li, MD, at Emory University School of Medicine, used genetically engineered mice in which the huntingtin gene can be deleted, triggered only when the mice are given the drug tamoxifen.

The huntingtin gene is essential for embryonic development, and scientists have already shown that if mouse embryos don't have it at conception, they die in utero.

The huntingtin gene encodes a large scaffold protein, with many interaction partners, which is thought to be involved in intracellular trafficking.

Additional research could make clear whether the post-natal role of huntingtin tapers off with age in humans in the same way that it does in mice.

In humans, Huntington's is an inherited disease caused by a gene encoding a toxic protein, called mutant huntingtin, which causes brain cells to die.

The finding suggests that treatment strategies for Huntington's that aim to shut off the huntingtin gene in adults — now in early clinical stages — could be safe.

In a nonhuman primate model geneticist Anthony Chan DVM, PhD, and his colleagues at Yerkes developed, rhesus macaques carry a gene encoding a fragment of mutant human huntingtin.

When the huntingtin gene is deleted at an age older than four months, these mice appeared to stay healthy, despite having lost their huntingtin genes in cells all over their bodies.

In Huntington's disease, mice carrying the pathologic genetic variant of the huntingtin gene are being used to understand how this genetic lesion causes degeneration of striatal neurons and to develop novel treatments for the illness.

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.

«The damage caused by the mutant huntingtin protein radiates out through the cell, like a pebble dropped in a pond.

Mochly - Rosen and colleagues identified several other potential biomarkers that were elevated in HD model mice, including the levels of 8 - hydroxy - deoxy - guanosine, a product of oxidative DNA damage, in the urine and the presence of mutant huntingtin aggregates and oxidative damage in muscle and skin cells.

«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.»

Huntington's disease is an inherited genetic disorder caused by mutations in the gene that encodes huntingtin protein.

The study successfully countered harmful effects of mutant huntingtin and protected nerve cells in several models of Huntington's disease.

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

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 aggregatioIn 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 aggregatioin 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 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.

Different proteins are implicated in each disease: tau in Alzheimer's, alpha - synuclein in Parkinson's and huntingtin in Huntington's disease.

Huntingtin, the single gene mutation responsible for the disease, was identified in 1993.

In March Chris Ross and his colleagues reported that cells bearing mutant huntingtin could survive if they produced extra CBP.

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.

2015 will see the start of the first human clinical trial of a gene silencing or huntingtin - lowering drug, which specifically aims to reduce production of mutant huntingtin in the brains of HD patients.

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 international team of scientists from University College London, IRBM Promidis, University of British Columbia, and CHDI Foundation developed a new ultra-sensitive test using the Singulex SMC Technology Erenna Immunoassay system that is able to detect mutant huntingtin in the cerebrospinal fluid (CSF) of HD patients, including some who carry the HD mutation but have not yet developed symptoms.

What's more, the concentration of mutant huntingtin predicted the severity of movement and cognitive problems in patients.

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 team's ongoing study is now looking at how the complete huntingtin protein, which contains parts in addition to the polyglutamine repeats, aggregates.

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

Next, Grima looked at cell death in cultured neurons with a healthy or a mutant form of Huntingtin, or with a mutant form of Huntingtin that was treated with small amounts of an experimental drug called KPT - 350, one that prevents a nuclear export protein, Exportin - 1, from shuttling proteins and RNA out of the nucleus.

Blocking nuclear export seemed to prevent cells from dying and counteracted the defects in neurons with mutant Huntingtin, the researchers say.

To further explore nuclear transport's role in Huntington's disease, Grima took lab - grown mouse neurons and used chemical switches to a) turn on both an additional healthy copy of the RanGAP1 gene and a mutant version of Huntingtin; b) just turn on the mutant Huntingtin; or c) just turn on a healthy version of Huntingtin.

Genes that lead to the toxic effects of the huntingtin gene may be silenced by these microRNAs, in particular the miR - 10b - 5p microRNA.