HOME >> BIOLOGY >> NEWS
Novel gene mutation causes Huntington's-like symptoms, providing window into how brain cells die

"This is a rare version of an already rare disorder, but the mutation that causes it may not only help us better understand Huntington's Disease, but could boost our understanding of many other neurodegenerative disorders . . ." Russell L. Margolis, M.D.

Researchers at Johns Hopkins have discovered a gene mutation that causes a condition apparently identical to Huntington's Disease, helping to explain why some people with the disorder do not have the mutation found in most cases. The finding may help reveal why some diseases, like Huntington's, Alzheimer's and Parkinson's, destroy some brain cells while sparing others.

"For all practical purposes this is Huntington's Disease, yet it's caused by a different mutation on a completely different chromosome," said Russell L. Margolis, M.D., associate professor of Psychiatry at Hopkins and director of the Laboratory of Genetic Neurobiology.

The new mutation is in a gene called junctophilin-3 on chromosome 16, and the disorder it causes is called Huntington's Disease-like 2 (HDL2). The mutation that causes most Huntington's Disease cases is called huntingtin, and is found on chromosome 4, according to Margolis.

The scientists don't know how the new mutation affects the gene's function, but they do know that it leads to a pattern of brain cell death identical to Huntington's Disease: the same types of nerve cells are destroyed, the same regions of the brain, called the basal ganglia and the caudate nucleus, are targeted, and one side of the brain is affected more than the other. People with HDL2 also have the same types of changes in emotions, thinking, and decline in motor skills as those with Huntington's Disease. Like Huntington's, HDL2 occurs in mid-adult life and leads to death in about 10 to 20 years.

The type of mutation in the two genes is also similar. Both are repeat expansions, where a small segment of DNA, in this case three consecutive base-pairs, is repeated
'"/>

Contact: Trent Stockton
tstockt1@jhmi.edu
410-955-8665
Johns Hopkins Medical Institutions
18-Oct-2002


Page: 1 2

Related biology news :

1. Novel IBD therapeutic approaches reported from Washington Univ., Barcelona, LSU at APS meeting
2. Novel therapeutic bortezomib moves to phase II trial in lung cancer patients
3. Novel approaches to current cellular therapies continue progress toward disease prevention
4. Novel therapies show promise against myeloid leukemia
5. Novel sensors help clear the air
6. Fox Chase Cancer Center study: Novel DNA-repair gene mutation can cause resistance to cancer drugs
7. Novel proteins designed that block inflammation regulator associated with rheumatoid arthritis
8. Novel therapeutic target identified in fight against Rheumatoid Arthritis
9. Novel bacterium detoxifies chlorinated pollutants
10. Novel flu vaccine shows promise in mice
11. Novel gene therapy on the horizon, says Brenner Childrens Hospital pediatrician

Post Your Comments:
(Date:10/29/2014)... both genetic and environmental, have been blamed for ... Some, such as a family history of schizophrenia, ... Toxoplasma gondii , a parasite transmitted by ... viewed with skepticism. , A new study by ... at the University of Pennsylvania,s School of Veterinary ...
(Date:10/29/2014)... household and industrial products are in the environment – ... of them, scientists have yet to determine whether they ... toward doing that by estimating which substances people are ... in the ACS journal Environmental Science & Technology ... the risks to human health of any given substance ...
(Date:10/29/2014)... held in New York City on September 19, 2014, ... Cancer Society Professor of Genome Sciences and Medicine at ... Doctor of Philosophy of Tel Aviv University, was awarded ... , In addition to her honorary degree from TAU, ... TAU School of Medicine, and for the past 18 ...
Breaking Biology News(10 mins):Penn vet professor investigates parasite-schizophrenia connection 2Penn vet professor investigates parasite-schizophrenia connection 3Geneticist and humanitarian: Prof. Mary-Claire King receives Lasker Award 2
(Date:10/31/2014)... York, NY (PRWEB) October 31, 2014 ... such as healthcare, construction, finance and consumer electronics ... For this reason, industry research firm IBISWorld has ... industry to its growing industry report collection. , ... develop software for biometric technologies such as fingerprint, ...
(Date:10/30/2014)...  Ardelyx, Inc. (NASDAQ: ARDX ), ... and metabolic diseases, today announced that it will ... November 6, 2014. Following the announcement, the Ardelyx ... and webcast at 4:30pm ET to review the ... The live webcast can be accessed ...
(Date:10/30/2014)... CA (PRWEB) October 30, 2014 ... today that they have manually curated public data source ... non profit customers. the data is now available ... curates and unifies public and internal data sources for ... and knowledge out of the data that becomes more ...
(Date:10/30/2014)... Grace Century portfolio project, Provia Laboratories , ... the Board, to the National Stem Cell Ethics Committee ... by the Ministry of Health on behalf of the Government ... More than a year after Bahamian Parliament passed the ... Christie said the government has completed the accompanying regulations and ...
Breaking Biology Technology:Biometrics Scan Software in the US Industry Market Research Report Now Available from IBISWorld 2Biometrics Scan Software in the US Industry Market Research Report Now Available from IBISWorld 3Ardelyx to Report Third Quarter 2014 Financial Results on November 6, 2014 2Rancho BioSciences Manually Curated TCGA Data Sets Available 2Grace Century’s Stem Cell Biobank Project Announces Chairman’s Appointment to National Stem Cell Ethics Committee of The Bahamas 2Grace Century’s Stem Cell Biobank Project Announces Chairman’s Appointment to National Stem Cell Ethics Committee of The Bahamas 3
Cached News: