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:
*Name:
*Comment:
*Email:


(Date:6/27/2016)... -- Research and Markets has announced the addition of ... their offering. The report forecasts ... grow at a CAGR of 12.28% during the period 2016-2020. ... market analysis with inputs from industry experts. The report covers the ... report also includes a discussion of the key vendors operating in ...
(Date:6/22/2016)... 22, 2016  The American College of Medical Genetics and ... Magazine as one of the fastest-growing trade shows during ... the Bellagio in Las Vegas . ... of growth in each of the following categories: net square ... number of attendees. The 2015 ACMG Annual Meeting was ranked ...
(Date:6/22/2016)... , June 22, 2016   ... management and verification solutions, has partnered with ... software solutions for Visitor Management, Self-Service Kiosks ... provides products that add functional enhancements to ... provides corporations and venues with an automated ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... June 24, 2016  Regular discussions on a range of ... between the two entities said Poloz. Speaking at ... Ottawa , he pointed to the country,s inflation target, ... government. "In certain ... institutions have common economic goals, why not sit down and ...
(Date:6/24/2016)... NC (PRWEB) , ... June 24, 2016 , ... Researchers ... the most commonly-identified miRNAs in people with peritoneal or pleural mesothelioma. Their findings are ... to read it now. , Diagnostic biomarkers are signposts in the blood, lung ...
(Date:6/23/2016)... CAMBRIDGE, Mass. , June 23, 2016 /PRNewswire/ ... the development of novel compounds designed to target ... compound, napabucasin, has been granted Orphan Drug Designation ... in the treatment of gastric cancer, including gastroesophageal ... cancer stemness inhibitor designed to inhibit cancer stemness ...
(Date:6/23/2016)... HOUSTON , June 23, 2016 ... agreement with the Cy-Fair Sports Association to serve ... of the agreement, Houston Methodist Willowbrook will provide ... education and connectivity with association coaches, volunteers, athletes ... partner with the Cy-Fair Sports Association and to ...
Breaking Biology Technology:
Cached News: