Navigation Links
Fatal cellular malfunction identified in Huntington's disease
Date:6/23/2014

Researchers believe they have learned how mutations in the gene that causes Huntington's disease kill brain cells, a finding that could open new opportunities for treating the fatal disorder. Scientists first linked the gene to the inherited disease more than 20 years ago.

Huntington's disease affects five to seven people out of every 100,000. Symptoms, which typically begin in middle age, include involuntary jerking movements, disrupted coordination and cognitive problems such as dementia. Drugs cannot slow or stop the progressive decline caused by the disorder, which leaves patients unable to walk, talk or eat.

Lead author Hiroko Yano, PhD, of Washington University School of Medicine in St. Louis, found in mice and in mouse brain cell cultures that the disease impairs the transfer of proteins to energy-making factories inside brain cells. The factories, known as mitochondria, need these proteins to maintain their function. When disruption of the supply line disables the mitochondria, brain cells die.

"We showed the problem could be fixed by making cells overproduce the proteins that make this transfer possible," said Yano, assistant professor of neurological surgery, neurology and genetics. "We don't know if this will work in humans, but it's exciting to have a solid new lead on how this condition kills brain cells."

The findings are available online in Nature Neuroscience.

Huntington's disease is caused by a defect in the huntingtin gene, which makes the huntingtin protein. Life expectancy after initial onset is about 20 years.

Scientists have known for some time that the mutated form of the huntingtin protein impairs mitochondria and that this disruption kills brain cells. But they have had difficulty understanding specifically how the gene harms the mitochondria.

For the new study, Yano and collaborators at the University of Pittsburgh worked with mice that were genetically modified to simulate the early stages of the disorder.

Yano and her colleagues found that the mutated huntingtin protein binds to a group of proteins called TIM23. This protein complex normally helps transfer essential proteins and other supplies to the mitochondria. The researchers discovered that the mutated huntingtin protein impairs that process.

The problem seems to be specific to brain cells early in the disease. At the same point in the disease process, the scientists found no evidence of impairment in liver cells, which also produce the mutated huntingtin protein.

The researchers speculated that brain cells might be particularly reliant on their mitochondria to power the production and recycling of the chemical signals they use to transmit information. This reliance could make the cells vulnerable to disruption of the mitochondria.

Other neurodegenerative conditions, including Alzheimer's disease and amyotrophic lateral sclerosis, also known as Lou Gehrig's disease, have been linked to problems with mitochondria. Scientists may be able to build upon these new findings to better understand these disorders.


'/>"/>

Contact: Michael C. Purdy
purdym@wustl.edu
314-286-0122
Washington University School of Medicine
Source:Eurekalert

Related medicine news :

1. Penn study reveals a common genetic link in fatal autoimmune skin disease
2. Research shows hope for normal heart function in children with fatal heart disease
3. The fatality rate among hard drug users is 14 times higher than for the general population
4. Study identifies risk factors for non-fatal overdoses
5. New York Car Accident Lawyer Adnan Munawar Weighs-in on Report of 3rd Fatal Accident at Same Queensboro Bridge Exit
6. Asbestos Found in Winnebago County Jail, Florida Asbestos Testing Company AGC Environmental Offers Tip How to Avoid the Mineral Fiber's Fatal Health Effects
7. Study Finds Infants Under 6 Months Too Young for Flu Shot at High Risk to Influenza Fatalities- UV Technologies Makers of UV-Aid, Develop New Flu Prevention Alternative
8. Fatal cholesterol disease overlooked and untreated
9. Rising rates of severe and fatal sepsis during labor and delivery
10. Novus Detox Says Pill Mill Legislation Leaves Unpredicted Fatal Consequence for Communities
11. Nursing professor receives funding to better estimate child fatalities due to abuse and neglect
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/21/2017)... ... July 21, 2017 , ... Hospital M&A activity slowed in the ... number of hospital acquisitions rose to 23 in the second quarter, up 15% from ... from the 20 announced deals in the year-ago second quarter. Only four of the ...
(Date:7/21/2017)... ... July 21, 2017 , ... ... a $5,000 grant from the C. R. Bard Foundation, Inc. to ... Somerset Hills , a service available through the nonprofit home care agency. Using ...
(Date:7/21/2017)... ... July 21, 2017 , ... West Dermatology is pleased to ... PA-C. Beginning July 17, 2017, Ms. Vu will join West Dermatology’s large network of ... in dermatology, skin cancer , and more. She graduated from the University of ...
(Date:7/20/2017)... ... July 20, 2017 , ... TransPixel Volume 2 is a set of transitions ... timeline. This effect isolates horizontal and vertical lines of pixels and sorts their pixels ... or flipping animation and can be changed using a drop-down menu. Create amazing and ...
(Date:7/20/2017)... Houston, Texas (PRWEB) , ... July 20, 2017 ... ... and litigation law firm headquartered in Houston, is pleased to announce their expansion ... decades of affordable housing experience, directors Alysse Hollis and Ronald Bell, and of ...
Breaking Medicine News(10 mins):
(Date:7/14/2017)... -- Endo International plc (NASDAQ: ENDP ) will announce ... of its senior management team will host a conference call and ... The dial-in number to access the call is ... the passcode is 45397076. Please dial in 10 minutes prior to ... A replay of the call will be available from August 8, ...
(Date:7/13/2017)... 13, 2017  New York City-based market research firm Kalorama ... be aware of.  From new products to new costs, to ... a recently completed study, Potential Pipeline Disruptors . ... 1.  Age-Driven Growth - True Impact Moment ... of the impact the growing population and, to a more ...
(Date:7/11/2017)... WHIPPANY, N.J. , July 11, 2017  Bayer has ... across eight countries as part of its prestigious Bayer Hemophilia ... Children,s Hospital of Philadelphia and Uniformed ... are among the winners. Grant recipients were announced ... Thrombosis and Hemostasis (ISTH) 2017 Congress, Berlin, Germany ...
Breaking Medicine Technology: