Navigation Links
New genetic disorder of balance and cognition discovered
Date:12/6/2012

The family of disorders known as ataxia can impair speech, balance and coordination, and have varying levels of severity. Scientists from the Universities of Oxford and Edinburgh have identified a new member of this group of conditions which is connected to 'Lincoln ataxia', so called because it was first found in the relatives of US President Abraham Lincoln. The results are published in the journal PLOS Genetics.

Lincoln ataxia affects the cerebellum, a crucial part of the brain controlling movement and balance. It is caused by an alteration in the gene for 'beta-III spectrin', a protein found in the cerebellum. Each person has two copies of a gene, and in Lincoln ataxia there is an alteration in only one of the two copies. Unexpectedly, the British scientists have found cases of alterations in both copies of the gene, causing a novel disorder called 'SPARCA1' which is associated with a severe childhood ataxia and cognitive impairment.

This is the first report of any spectrin-related disorder where both copies of the gene are faulty and has given important insights into both Lincoln ataxia and SPARCA1.

The work was done using whole genome sequencing, a relatively new technology which allows all of a person's genetics information to be analysed. In addition to sequencing work, the scientists characterized the condition using mice lacking beta-III spectrin. This analysis, combined with previous work, links the protein defect to changes in nerve-cell shape in the brain areas associated with cognition and coordinated movements. The work shows that loss of normal beta-III spectrin function underlies both SPARCA 1 and Lincoln ataxia, but a greater loss of beta-III spectrin is required before cognition problems arise.

The combination of methods used in this study highlight a broad role for spectrin in normal brain function beyond the cerebellum. There are many brain spectrins and the team are now searching for other abnormalities of spectrin function, as they believe these are part of an expanding group of conditions known as "neuronal spectrinopathies".


'/>"/>
Contact: Dr. Andrea H Nmeth
andrea.nemeth@eye.ox.ac.uk
Public Library of Science
Source:Eurekalert

Related medicine news :

1. IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children
2. 2 genetic deletions in human genome linked to the development of aggressive prostate cancer
3. Head, Body Lice Are Genetically Very Similar
4. Certain Genetic Regions May Be Tied to Osteoporosis
5. Study of half siblings provides genetic clues to autism
6. Genetic variants, tobacco exposure and lung cancer risk
7. Research Gets Closer to Genetic Roots of Glaucoma
8. Moffitt researcher awarded GE grant to develop tool to detect breast cancer metastasis genetic risks
9. Genetically modified T cell therapy shown to be safe, lasting in decade-long study of HIV patients
10. Some women may be genetically predisposed to smoking-related hot flashes
11. Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/23/2017)... (PRWEB) , ... February 23, 2017 , ... Carlos ... problems. He has also continued to spiritually evolve, which is the purpose of everyone ... “ Our Spiritual Truths ” (published by Balboa Press) attempts to guide readers to ...
(Date:2/22/2017)... ... February 22, 2017 , ... Stem cell therapy has ... technology is so cutting edge, in fact, the U.S. Food and Drug Administration ... However, successful patient outcomes in certain clinical stem cell procedures have shown that ...
(Date:2/22/2017)... ... February 22, 2017 , ... South Bend’s Lunkerville, the award-winning TV ... feature Heroes On The Water (HOW), a non-profit organization dedicated to helping military veterans ... series host ‘Mike D’ traveling to Lake Denmark, New Jersey, to fish with war ...
(Date:2/22/2017)... Jacksonville, Fla. (PRWEB) , ... February 22, 2017 ... ... aneurysms is just as effective on smaller and sometimes harder to reach ones, ... findings were presented at the International Stroke Conference in Houston by Ricardo A. ...
(Date:2/22/2017)... Singapore, Singapore (PRWEB) , ... February 22, 2017 , ... ... high-end medical leads utilizing a simple online checklist. Over a period of just 24 ... with the assistance of an online checklist called T.A.D. , “The internet is not ...
Breaking Medicine News(10 mins):
(Date:2/23/2017)... NEW YORK , Feb. 22, 2017 /PRNewswire/ ... dominate medical implant demand, as aging demographic patterns ... heart-related conditions. Implants for sports- and exercise-related injuries, ... artery disease will lead sales gains. The future ... The study addresses the following questions and more: ...
(Date:2/23/2017)... Ill. , Feb. 23, 2017 Takeda ... subsidiary of Takeda Pharmaceutical Company Limited (TSE:4502) and Cognition ... PLC and Ctrl Group Limited, announced a collaboration to ... an Apple Watch wearable to monitor and assess cognitive ... Depression (MDD) is the leading cause of disability ...
(Date:2/23/2017)... 22, 2017 Mixed tocopherols market projected to grow ... market is projected to reach USD 5.27 billion by 2022, ... driven by factors such as health and wellness trends, for ... and regulations for sourcing, processing, packaging, and labeling of food ... markets such as the Asia-Pacific region ...
Breaking Medicine Technology: