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:10/4/2017)... Solutions, a global clinical research organization (CRO), announces the launch of ... 4, 2017. Shadow is designed to assist medical writers and biometrics ... the European Medicines Agency (EMA) in meeting the requirements for de-identifying ... ... ...
(Date:7/20/2017)... DAL ) customers now can use fingerprints instead of their ... (DCA). ... launches biometrics to board aircraft at Reagan Washington National Airport ... Delta,s biometric boarding pass experience that launched in May at ... process to allow eligible Delta SkyMiles Members who are enrolled in CLEAR ...
(Date:6/14/2017)... 15, 2017  IBM (NYSE: IBM ) is introducing several ... dedicated to developing collaboration between startups and global businesses, taking ... During the event, nine startups will showcase the solutions they ... industries. France is ... with a 30 percent increase in the number of startups ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... Disappearing forests and increased emissions are the main ... people each year. Especially those living in larger cities are affected by air pollution ... of the most pollution-affected countries globally - decided to take action. , “I knew ...
(Date:10/11/2017)... Florida (PRWEB) , ... October 11, 2017 , ... ... Drug Administration (FDA) has granted orphan drug designation to SBT-100, its novel anti-STAT3 ... for the treatment of osteosarcoma. SBT-100 is able to cross the cell membrane ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights that give it exclusive ... a technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). ...
(Date:10/10/2017)... ... ... Dr. Bob Harman, founder and CEO of VetStem Biopharma, Inc. ... event entitled “Stem Cells and Their Regenerative Powers,” was held on August 31st, ... was joined by two human doctors: Peter B. Hanson, M.D., Chief of Orthopedic Surgery, ...
Breaking Biology Technology:
Cached News: