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:7/28/2014)... Earth that are high priorities for conservation in the ... as it has the lowest fraction of its land ... ,refugia, areas of biological diversity that support many ... times of great environmental change. The refugia that do ... , The biggest refugia are in the Amazon, ...
(Date:7/28/2014)... hunter, but the target of his work consists of ... special methods and instruments. Benjamin Hause, an assistant research ... Kansas State University, recently published an article about one ... important find in the United States. , "We had ... it was," Hause said. "We used next-generation sequencing to ...
(Date:7/28/2014)... found that 73 percent of adult survivors of childhood ... syndrome and related health problems by failing to follow ... issue of the journal Cancer . , Almost ... cancer in the study had metabolic syndrome, an umbrella ... abdominal obesity, elevated triglyceride and other abnormalities that often ...
Breaking Biology News(10 mins):Study finds Europe's habitat and wildlife is vulnerable to climate change 2Researcher using next-generation sequencing to rapidly identify pathogens 2Researcher using next-generation sequencing to rapidly identify pathogens 3Unhealthy habits more than double risk of metabolic syndrome in childhood cancer survivors 2Unhealthy habits more than double risk of metabolic syndrome in childhood cancer survivors 3
(Date:7/28/2014)... COLLEGE STATION, Texas , July 28, 2014 /PRNewswire/ ... will be a 177-key, 4-star boutique hotel in the heart ... , Texas.  Photo - http://photos.prnewswire.com/prnh/20140725/130455 ... the first hotel within ATLAS , The ... mixture of standard rooms and suites, a sleek restaurant and bar, ...
(Date:7/25/2014)... Albany, NY (PRWEB) July 26, 2014 ... Trials Review, H2, 2014" provides data on the ... This report provides elemental information and data relating ... Cerebral Stroke. , View full global Ischemic Stroke ... It includes an overview of the trial numbers ...
(Date:7/25/2014)... 25, 2014 Research and Markets ... Metabolomics Market 2014-2018" report to their offering. ... Metabolomics or Metabonomics is the scientific study ... a new experimental technique that is being widely ... Metabolites are small molecules that are present in ...
(Date:7/25/2014)... California (PRWEB) July 25, 2014 Lawrence ... named to Thomson Reuters list of " The World's ... are part of the 3,000 researchers who were identified ... to recognize those who published the highest-impact work (2002-2012 ... research papers on combustion modeling . , "This ...
Breaking Biology Technology:Texas' Biocorridor Announces the Atlas Hotel, Centerpiece of Mixed Use Community for Biotech Industry 2Texas' Biocorridor Announces the Atlas Hotel, Centerpiece of Mixed Use Community for Biotech Industry 3Texas' Biocorridor Announces the Atlas Hotel, Centerpiece of Mixed Use Community for Biotech Industry 4Ischemic Stroke and Cerebral Stroke Global Clinical Trials Review H2, 2014: MarketResearchReports.Biz 2Ischemic Stroke and Cerebral Stroke Global Clinical Trials Review H2, 2014: MarketResearchReports.Biz 3Global Metabolomics Market 2014-2018: Key Vendors are Agilent, Bio-Rad, Bruker, Human Metabolome and Metabolon 2Scientists Burst onto Influential List for Combustion Research 2Scientists Burst onto Influential List for Combustion Research 3Scientists Burst onto Influential List for Combustion Research 4
Cached News: