HOME >> MEDICINE >> NEWS
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
sandy@prpacific.com
1-800-880-2397
Cedars-Sinai Medical Center
27-Feb-2006


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:4/17/2014)... signs of chronic inflammation in non-cancerous prostate tissue may ... cancer than those with no inflammation, according to results ... Johns Hopkins Kimmel Cancer Center. , The link between ... with so-called high-grade prostate cancer those with a ... presence of the most aggressive and rapidly growing prostate ...
(Date:4/17/2014)... a study published today in PLOS Pathogens , ... malaria is common can mount an immune response to ... avoid repeated bouts of high fever and illness and ... bloodstream. The findings may help researchers develop future interventions ... malaria parasite. , Each year, approximately 200 million cases ...
(Date:4/17/2014)... In a review published in the April issue of ... The Feinstein Institute for Medical Research, says it,s time ... approach to treating sepsis, which kills millions ... Sepsis occurs when molecules released into the bloodstream to ... body. Inflammation is necessary for maintaining good health ...
(Date:4/17/2014)... Doctors who treat patients with a severe and ... an agonizing treatment decision. , The drug sirolimus ... relieve shortness of breath. But some patients eventually ... potentially fatal complications following transplantation. , "It,s a ... director of Loyola University Medical Center,s LAM Clinic ...
(Date:4/17/2014)... By discovering a new mechanism that allows blood to ... UC Irvine and the Salk Institute have opened the ... stroke-induced brain damage. , A complex and devastating neurological ... primary reason for disability in the U.S. The blood-brain ... blood-borne material into the brain, causing the permanent deficits ...
Breaking Medicine News(10 mins):Health News:Chronic inflammation linked to 'high-grade' prostate cancer 2Health News:Chronic inflammation linked to 'high-grade' prostate cancer 3Health News:Study sheds light on how the immune system protects children from malaria 2Health News:Feinstein Institute researcher publishes new perspective on sepsis 2Health News:Patients with rare lung disease face agonizing treatment dilemma 2Health News:Patients with rare lung disease face agonizing treatment dilemma 3Health News:Study IDs new cause of brain bleeding immediately after stroke 2
(Date:1/15/2014)...  Zafgen, Inc., a leading biopharmaceutical company dedicated to ... today announced initial results from its Phase 2a ... aminopeptidase 2 (MetAP2), in patients with Prader-Willi syndrome ... results showed improvements in body weight, hunger-related behaviors, ...
(Date:1/14/2014)... 2014 HeartWare International, Inc . (NASDAQ: ... miniaturized circulatory support technologies that are revolutionizing the treatment ... revenues for the fourth quarter of 2013 will be ... approximately $208 million. "Our full-year revenue growth ...
(Date:1/14/2014)... 14, 2014 InformEx, North America,s ... chemistry, will hold the 30 th edition of its ... Convention Center from January 21-24. (Logo: http://photos.prnewswire.com/prnh/20131028/NY05330LOGO-a ... pharmaceutical, fine chemical and specialty chemical companies will take part ...
Breaking Medicine Technology:Zafgen Announces Initial Results from Phase 2a Study of Beloranib in Patients with Prader-Willi Syndrome 2Zafgen Announces Initial Results from Phase 2a Study of Beloranib in Patients with Prader-Willi Syndrome 3Zafgen Announces Initial Results from Phase 2a Study of Beloranib in Patients with Prader-Willi Syndrome 4HeartWare International Announces Preliminary Fourth Quarter 2013 Revenues 2HeartWare International Announces Preliminary Fourth Quarter 2013 Revenues 3HeartWare International Announces Preliminary Fourth Quarter 2013 Revenues 4Media Advisory: InformEx 2014 Events & Speaker Lineup for 30th Edition Conference in Miami Beach 2
Cached News: