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

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 the Pasteur Institute in Franc
'"/>

Source:Cedars-Sinai Medical Center


Page: 1 2 3

Related biology news :

1. Novel Asthma Study Shows Multiple Genetic Input Required; Single-gene Solution Shot Down
2. Emory Study Tests Bone Marrow Stem Cells to Improve Circulation in Legs
3. UCLA Study Shows One-Third of Drug Ads in Medical Journals Do Not Contain References Supporting Medical Claims
4. Study Demonstrates Gene Expression Microarrays are Comparable and Reproducible
5. Study Links Ebola Outbreaks To Animal Carcasses
6. Breakthrough Microarray-based Technology for the Study of Cancer
7. NYU Study Reveals How Brains Immune System Fights Viral Encephalitis
8. Study finds more than one-third of human genome regulated by RNA
9. Leukemia Drug Breakthrough Study In New England Journal Of Medicine
10. Study identifies predictors of HIV drug resistance in patients beginning triple therapy
11. New Study from Affymetrix Laboratories Points to Changing View of How Genome Works
Post Your Comments:
(Date:1/22/2015)... , Jan. 21, 2015  Analyst Report Issued by Small ... Brands report showed that planet-wide, transactions at merchants on the ... the total number of credit, debit, and prepaid cards reached ... were victims of fraudulent card usage in 2012, and credit ...
(Date:1/22/2015)... NEW YORK , Jan. 22, 2015   EyeLock, Inc. ... announced it has appointed Steve Gerber to the ... Gerber will be responsible for leading development of mobile platforms ... 25 years of success and innovation in the semiconductor industry ...
(Date:12/22/2014)... Inc. (NASDAQ: NXTD and NXTDW) ("NXT-ID" or ... mobile commerce market, announces it has retained famous pickpocket, entertainer ... International CES debut of the Wocket™ biometric smart wallet.  ... NXT-ID booth January 6th and 7 th , 2015, demonstrating ...
Breaking Biology News(10 mins):$4.80 Near Term Price Target with "Buy" given by CapRock Research for NXT-ID, Inc. (NASDAQ: NXTD) issued by Small Cap IR 2EyeLock Names Steve Gerber as Senior Vice President of Mobile and Wearables 2NXT-ID Hires Master Pickpocket and Security Consultant Apollo Robbins for Wocket Smart Wallet CES 2015 Debut 2NXT-ID Hires Master Pickpocket and Security Consultant Apollo Robbins for Wocket Smart Wallet CES 2015 Debut 3NXT-ID Hires Master Pickpocket and Security Consultant Apollo Robbins for Wocket Smart Wallet CES 2015 Debut 4
... Tuesday, Nov. 16, 2010 Tying in with ... new pre-conference workshops will debut at this year,s TERMIS-North ... Orlando, Fla. The TERMIS (Tissue Engineering & ... by the Wake Forest Institute for Regenerative Medicine, and ...
... brink of an era of mass extinctions similar to ... disappeared from the Earth, reports a biologist at Penn ... a species-rescue program for Haiti,s threatened frogs and other ... few decades, many Haitian species of plants and animals ...
... SAN DIEGO New research indicates that the ... About two percent of the population has a condition called ... are experienced at once. Although this condition is rare, the ... sometimes overlapping ways to help people interpret and understand their ...
Cached Biology News:Regenerative medicine workshops to debut at TERMIS North America Annual Conference 2Rescue missions underway to save Haiti's species from mass extinctions 2Rescue missions underway to save Haiti's species from mass extinctions 3Rescue missions underway to save Haiti's species from mass extinctions 4Rescue missions underway to save Haiti's species from mass extinctions 5Hearing colors, seeing sounds: New research explores sensory overlap in the brain 2
(Date:1/22/2015)... , Jan. 22, 2015  Transwestern | RBJ today announces the ... office space for Shire a leading biopharmaceutical company, at Two ... | RBJ,s Robert Richards , president, and Brian ... for the entire five-floor building at 95 Hayden Ave. ...
(Date:1/22/2015)... OH (PRWEB) January 22, 2015 Crystal Diagnostics ... today that it has received AOAC-PTM Certifications for the six ... O121, and O145; collectively referred to as STEC or the ... 1 colony forming unit (cfu) per 325 g of raw ...
(Date:1/22/2015)... January 22, 2015 Controlled Substance Compliance ... which helps companies check the legal requirements around using ... to China. , As their international operations expand ... adopting software solutions built as a result of the ...
(Date:1/22/2015)...   Cypher Genomics, Inc., the leading genome ... SQNM ), the leading molecular diagnostics company, today ... prenatal tests (NIPT). Through this agreement, Sequenom will ... advance analysis of clinically-relevant fetal sub-chromosomal variants detected ...
Breaking Biology Technology:Transwestern?RBJ Advises Shire in 202,000 SF Lease, Creating Boston's Largest Suburban Biotech Campus 2Crystal Diagnostics Awarded AOAC-PTM Accreditation for the Rapid Detection of “Big 6” E.coli Food Pathogens 2Global Compliance Service for Controlled Substances to Expand to China 2Cypher Genomics and Sequenom Announce Development Agreement 2Cypher Genomics and Sequenom Announce Development Agreement 3Cypher Genomics and Sequenom Announce Development Agreement 4
... Neuftec,Limited, the proprietor of the original nano-particulate ... claim against Oxonica Energy,Limited, a wholly owned subsidiary ... in the High Court of Justice, has commented ... by Dr Matthews,(CEO) on 19 June 2008., ...
... have invented an affordable technique that uses lasers and ... needed for new generations of microchips. , The ... times narrower than a human hair, may enable the ... applications in medicine, optical communications, computing and sensor technologies. ...
... June 18 ,Exelixis, Inc. (Nasdaq: EXEL ) announced ... officer at Exelixis, will present at the,Piper Jaffray Europe ... time on Wednesday, June 25, 2008. Mr. Karbe will ... The presentation will be webcast and may be ...
Cached Biology Technology:Neuftec Responds to a Fundamental Inaccuracy in Oxonica PLC's Regulatory Announcement 2Trap and zap: Harnessing the power of light to pattern surfaces on the nanoscale 2Trap and zap: Harnessing the power of light to pattern surfaces on the nanoscale 3
Formula variant: With macro- and micronutrients. Physical Form: powder Suitab tst: plant cell culture tested...
... Analyzer for superior sensitivity, mass accuracy, and resolving power., Specifications:, ... ion selection range: 150 - 4000 m/z, * Resolution: 14,000 (1400 ... * Dynamic range: 4 orders of magnitude ... ...
... PHD2000 syringe pump series combines Harvard Apparatuss best ... and a wide range of configuration options. A ... dimensions of syringes from all the major manufacturers. ... all the pertinent information from across the lab. ...
Mouse monoclonal antibody to RAD51L3 - RAD51-like 3 (S. cerevisiae)...
Biology Products: