Sentences with phrase «of huntingtin»

«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.

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

A copy of the huntingtin gene with a CAG - repeat length long enough to cause symptoms in some, but not all, people who carry it.

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.

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

After huge leaps forward in recent years, we're edging ever closer to human trials of huntingtin lowering or «gene silencing» as a potential treatment for Huntington's Disease.

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

15:19 - Nopoulos: KIDS - HD allows us to study not just HD but also the role of huntingtin in normal brain development

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.

Features a clinical trials roundup, an exclusive interview with Prof Sarah Tabrizi about the first trial of a huntingtin lowering «gene silencing» drug, and a surprise for EHDN president Prof Bernhard Landwehrmeyer.

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 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.

He then continued his training as a graduate student at the University of Colorado at Boulder, and as a postdoc at the California Institute of Technology in Pasadena, where he investigated the function of the Huntingtin gene in Huntington's disease, a neurodegenerative disorder.

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

«Our studies suggest that such concerns may be allayed if deletion of huntingtin occurs only in the adult brain or in older adults.»

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.

«When it comes to gene suppression or editing strategies for Huntington's disease, a major concern has been possible side effects because of huntingtin's essential function,» says Xiao - Jiang Li, who is professor of human genetics at Emory University School of Medicine.

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.

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.

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.

In cell - free assays, CRMP1 slows the spontaneous self - assembly of huntingtin fragments with glutamine expansions.

Cell biologist Junying Yuan and her colleagues at Harvard Medical School in Boston were curious whether Congo red could break down aggregates of huntingtin.

When caspases chopped off small peptides from the mutant region of huntingtin, they thought, the peptides accumulated into the abnormal globs seen in the neurons of Huntington's victims.

«We demonstrated that excision of the repeat tract with the use of a Cas9 nickase pair resulted in inactivation of the huntingtin gene and abrogation of toxic protein synthesis in cellular models of Huntington's disease,» says Dr. Olejniczak.

Huntington's disease is caused by the abnormal repetition of a specific DNA sequence at the tail end of the huntingtin gene.

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

German scientists have now revealed the shape of the huntingtin protein for the first time.

A quirk of the huntingtin gene might be helpful when it comes to avoiding these «off - target effects».

Since RNA - based gene silencing drugs have been successful so far, why bother with the greater challenge of targeting the DNA of the huntingtin gene itself, especially if it means dealing with virus particles and big, fragile drugs made of protein?

When a person has too many CAGs in a row near the start of the huntingtin gene, a harmful «mutant» form of the protein is produced based on the instructions in the gene.

However, the protein is ubiquitous and expressed in the developing embryo where it plays an essential role as revealed by the early embryonic lethality at day 7.5 of the complete knockout of the huntingtin gene in mouse.

Correlation of CAG repeat length between the maternal and paternal allele of the Huntingtin gene: evidence for assortative mating.

By analogy, if we were to write the normal huntingtin gene as the word «potato», patients with HD would have one copy of huntingtin misspelled as «potatato» or even «potatatatato».

Identifying the subcellular localization of huntingtin and understanding its effects on global gene expression are critical to this endeavor.

Edited to clarify the difference between complete reduction of huntingtin in the mouse experiments, as opposed to partial reduction by huntingtin - lowering drugs

Nonetheless, the Dragatsis team used this method to try and understand the extreme case of loss of huntingtin during adulthood.

A recent study using electron microscopes offers a striking glimpse of huntingtin, paving the way for future work.

To study what happens when huntingtin is removed during adulthood, a team of researchers led by Ioannis Dragatsis at the University of Tennessee used a genetic tool to precisely time the removal of huntingtin in a large proportion of cells all over the body.

Drug - makers can build designer molecules with a sequence that will stick to the messenger molecule of the huntingtin gene, but not to other messengers.

Huntington's disease is caused by an unwanted expansion of the huntingtin gene.

He then measured cell death and found that neurons with the healthy version of Huntingtin had about 17 percent of the neurons die off.

The dose - dependent bit means that higher doses of the drug lead to lower levels of huntingtin in their spinal fluid.

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.

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

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.

In an announcement likely to stand as one of the biggest breakthroughs in Huntington's disease since the discovery of the HD gene in 1993, Ionis and Roche today announced that the first human trial of a huntingtin - lowering drug, IONIS - HTTRx, demonstrates that it reduces mutant huntingtin in the nervous system, and is safe and well - tolerated.

It may be that this inappropriate sticking interferes with proper splicing, resulting in the faulty short RNA copy of huntingtin.

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