Study ties 'new' cell-death mechanism to developmental and degenerative brain disorders

ino family and one in a French family. Although both mutations affect the firing of cerebellar neurons, they impact them in different ways and apparently lead to different disease manifestations.

The Filipino family's ataxia is an adult-onset type with prominent motor coordination symptoms and cerebellar atrophy. The French family's ataxia is a childhood-onset type, with mental retardation and seizures in some individuals. With mental retardation as one of the consequences, the KCNC3 potassium channel mutations are linked to neurodevelopmental as well as neurodegenerative disorders.

Spinocerebellar ataxias (SCA) include a number of hereditary neurological disorders, some of which emerge in childhood and others in adulthood, affecting one in 17,000 people. Ataxias affect coordination and many basic functions such as walking and speaking. They also may lead to eye movement abnormalities, cognitive decline, epilepsy and other significant deficits.

Twenty-seven specific locations on human chromosomes have been identified for involvement in the development of ataxias, and 10 causative genes or mutations have been determined. The gene and mutations in this study affect the SCA13 gene.

Ataxias are characterized by degeneration of nerve cells in the cerebellum, while the cell death of Alzheimer's disease takes place in the hippocampus of the temporal lobe and that of Parkinson's disease occurs in the substantia nigra of the brain stem.

Pulst said the new findings on neurodegeneration do not necessarily supersede the prevailing hypothesis of defective proteins. In fact, the two may be linked.

"It could be that the behavior of the nerve cell is altered, making it more susceptible to the onslaught of misfolded proteins, and it could be that misfolded proteins interfere in channel functions," said Pulst, who led a team of scientists from Cedars-Sinai Medical Center, the University of California, Los Angeles, the Mayo Clinic and

Contact: Sandy Van
Cedars-Sinai Medical Center

Page: 1 2 3

Related medicine news :

1. Study, meta-analysis examine factors associated with death from heatstroke
2. Study says COPD testing is not measuring up
3. Study suggests loss of 2 types of neurons -- not just 1 -- triggers Parkinsons symptoms
4. Study reveals gaps in vaccine financing for underinsured children
5. Study suggests nonpharmaceutical interventions may be helpful in severe influenza outbreaks
6. Study shows radiofrequency ablation highly effective in treating kidney tumors
7. Study says normal but out-of-control enzyme may be culprit that signals some cells to become cancer
8. Study finds HIV protease inhibitor drugs may adversely affect the scaffolding of the cell nucleus
9. Study outlines how stroke, head injury can increase risk of Alzheimers disease
10. Study identifies new regulator of fat metabolism
11. Study shows Diachrome improves blood sugar control in people with type 2 diabetes

Post Your Comments:

(Date:6/25/2016)... (PRWEB) , ... June 25, 2016 , ... ... athletes and non-athletes recover from injury. Recently, he has implemented orthobiologic procedures as ... City area —Johnson is one of the first doctors to perform the treatment. ...
(Date:6/24/2016)... ... June 24, 2016 , ... Those who have experienced traumatic events ... turn to unhealthy avenues, such as drug or alcohol abuse, as a coping mechanism. ... tools for healthy coping following a traumatic event. , Trauma sufferers tend to feel ...
(Date:6/24/2016)... , ... June 24, 2016 , ... Global law firm ... 2016 Legal Elite. The attorneys chosen by their peers for this recognition are considered ... Seven Greenberg Traurig Shareholders received special honors as members of this year’s Legal Elite ...
(Date:6/24/2016)... ... 2016 , ... People across the U.S. are sharpening their pencils and honing ... contest in which patients and their families pay tribute to a genetic counselor by ... Society of Genetic Counselors (NSGC) Annual Education Conference (AEC) this September. , In ...
(Date:6/24/2016)... ... 2016 , ... Strategic Capital Partners, LLC (SCP) in concert ... capital for emerging technology companies. SCP has delivered investment events and professional ... than a million dollars of capital investment for five companies. The ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... CAMBRIDGE, Mass. , June 24, 2016 /PRNewswire/ ... the Spaulding Rehabilitation Network,s Dean Center for ... of Physical Medicine and Rehabilitation, MIT Hacking Medicine, ... Center for Innovation, today announced the five finalists ... Hackathon for Lyme disease.  More than 100 scientists, ...
(Date:6/24/2016)... , June 24, 2016 Dehaier Medical ... the "Company"), which develops, markets and sells medical devices ... , signed a strategic cooperation agreement with Hongyuan ... "Hongyuan Supply Chain") on June 20, 2016, to develop ... the strategic cooperation agreement, Dehaier will leverage Hongyuan Supply ...
(Date:6/24/2016)... LEXINGTON, Mass. , June 24, 2016   ... specialty pharmaceutical company developing innovative inhaled drugs, announced today ... when Russell Investments reconstituted its comprehensive set ... 2016. "This is an important milestone for ... "It will increase shareholder awareness of our progress in ...
Breaking Medicine Technology:
Cached News: