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:9/22/2017)... ... September 22, 2017 , ... Happy Living’s mission - to improve ... carries it into the entertaining and delicious worlds of theatre and wines. , ... Living) convinced him to turn his play into a book. The Greener The Grass ...
(Date:9/22/2017)... ... September 22, 2017 , ... "Success Files," a short- and ... Alzheimer’s is a disease estimated to affect the lives of more than 5 ... Alzheimer’s Association, a leading voice in the fight for cure and research into ...
(Date:9/22/2017)... ... September 22, 2017 , ... ... and create life. Although frozen embryos have a slight statistical advantage for live ... freezing is a wonderful opportunity for women undergoing medical treatment or who are ...
(Date:9/21/2017)... ... ... SABRE is raising awareness about personal safety with a Chicago Transit Authority ... The Chicago, Illinois, based self-defense brand has been waiting for an opportunity like this ... their personal safety into their own hands. , The ads focus on their diverse ...
(Date:9/21/2017)... ... September 21, 2017 , ... Bill Howe Plumbing’s mission ... customers, and give back to the community. For over 37 years, they have operated ... companies serving plumbing in San Diego. They were chosen as the Best ...
Breaking Medicine News(10 mins):
(Date:9/18/2017)... KALAMAZOO, Mich. , Sept. 18, 2017  PMD ... OptiMed Specialty Pharmacy of Kalamazoo, Mich. ... strategic hub service that expedites and streamlines patient and ... Spiro PD 2.0, and wellness management services.  ... medical device used to measure lung function for a ...
(Date:9/12/2017)... 2017  ValGenesis Inc., the global leader in ... to announce the appointment of Dr. Ajaz ... of Directors and Chairman of Advisory Board beginning ... companies to manage their entire validation lifecycle process ... this process. Furthermore, ValGenesis VLMS enables rigorous compliance, ...
(Date:9/7/2017)... 7, 2017  For nearly two decades, New Life Agency has been ... Insurance industry. Today, New Life Agency announces a powerful three-way partnership designed ... ... ... http://pharmacarecard.com/ (PRNewsfoto/PharmaCareCard) ...
Breaking Medicine Technology: