New Insight Into the Cellular Defects in Huntington's Disease

Researchers at the Instut Curie in France have recently discovered a new function for the Htt protein concerning Huntington’s disease. Huntington’s disease is a neurogenerative disorder that over a span of time decreases mobility and function, and shortens the lifespan of a person with the disorder. It is caused by a mutant Htt gene and is inherited. Symptoms commonly develop during the mid 30s and 40s, but it may vary between individuals.

In a study done on mice led by Frédéric Saudou, the Htt protein was found to regulate the formation of cilia in the cells. They also found that the cilia in Huntington’s patients and in the mouse model with the disorder were longer and disorganized. Due to these findings, the researchers feel that the longer cilia could be a cause of some symptoms of Huntington’s disease, and plan to continue studies on this idea to test the validity of it. Other researchers, by Scott Zeitlin and Jeh-Ping Liu, at the University of Virginia say that this idea proposed bySaudou is important because it could help determine whether or not therapeutic strategies to normalize the cilia could in turn help alleviate the symptoms of Huntington’s disease in patients with the disorder.

Experimental therapeutics in mouse models of Huntington's disease

New Hope for Huntington’s disease

A story posted in the Medical News Today Janurary 14, 2012, states that new hope has been discovered for Huntington’s disease. Last year a research study conducted by Jan A. Nolta (UC Davis stem cell program and UC Davis Institute for Regenerative Cures) was published in the journal Molecular and Cellular Neuroscience that they may be able to provide gene therapy for individuals affected with Huntington's Disease by using inhibitory RNA sequences to reduce the amount of the mutant huntingtin protein. Huntington’s disease is a neurological degenerative genetic disorder that is caused by the mutation of the huntingtin gene, comprised of the abnormal repeating of the building block of DNA that appears on the fourth chromosome. The accumulation of the huntingtin protein in the brain of an individual leads to progressive uncontrolled movements, dementia and death.

In the study conducted by using a mouse model, the research team genetically created mesenchymal stem cells that were made from the bone marrow of the individuals that were unaffected with the disease to transfer the inhibitory RNA sequences from donor cells to the target cells. From this transfer, the amount of the huntingin protein present dropped significantly by over 50 %. The research team has hopes of transferring the RNA inference technology over to humans in a “sustained, safe and effective manner”.

It is intriguing to find that researchers have found a way to reduce the Huntingtin protein and even possibly eliminating the disease all together.  Huntington’s disease usually does not appear in individuals until they reach middle age, so individuals who have not developed the signs and symptoms the chance to stop the progression of the disease for it begins; also help the individuals already suffering from the disease before it progresses further.