Navigation Links
Animal results may pave way to treating rare mitochondrial diseases in children
Date:5/19/2011

A human drug that both prevents and cures kidney failure in mice sheds light on disabling human mitochondrial disorders, and may represent a potential treatment in people with such illnesses.

"There are no effective cures for mitochondrial diseases, even in animals," said study leader Marni J. Falk, M.D., who cares for children in the Mitochondrial-Genetics Disease Clinic at The Children's Hospital of Philadelphia. "So these striking results in mice may suggest a novel therapy of direct relevance for humans."

Falk and colleagues published their study online May 5 in the journal EMBO Molecular Medicine.

Mitochondria are tiny structures that operate as powerhouses within human and animal cells, generating energy from food. As such, they are fundamental to life. Failures of proper mitochondria function impair a wide range of organ systems.

Individually, mitochondrial diseases are very rare. However, because there are hundreds of these disorders, they collectively have a broad impact, affecting at least 1 in 5,000 people, and possibly more. Malfunctioning mitochondria also contribute to complex disorders, including diabetes, epilepsy, Alzheimer's disease and Parkinson's disease.

The current study focused on an inherited genetic deficiency that prevents the production of coenzyme Q, a critical antioxidant and component of the energy-generating respiratory chain. In humans and in the mutant mice used to model this disease, the deficiency results in fatal kidney failure. The current treatment, which consists of providing regular supplements of the missing enzyme product, coenzyme Q10, is often ineffective.

Falk's team fed the mutant mice probucol, an oral drug formerly used to treat people with high cholesterol (since replaced for that purpose by statin drugs). The drug prevented the mice from developing kidney disease, and also reversed kidney disease in mice that had already developed it. It also raised the levels of coenzyme Q10 within the animals' tissues and corrected signaling abnormalities.

"This drug showed remarkable benefits in the mice, especially when compared to directly feeding the mice supplements of the missing co-factorcoenzyme Q10," said Falk. "If this approach can be safely translated to humans, we may have a more effective treatment for mitochondrial disease than anything currently being used."

Primary coenzyme Q deficiency is vanishingly rare in humansonly a few dozen people are known to have the disease. However, said Falk, the disease is representative of a more common group of inherited, hard-to-treat mitochondrial diseases called respiratory chain (RC) defects.

RC defects share a common cellular failure to properly consume oxygen for the purposes of generating energy. Such defects, caused by a wide range of genetic disorders that affect mitochondria, constitute a common culprit in human mitochondrial disease. "If using probucol or a similar drug can benefit patients with defects in the respiratory chain, this could be a significant advance in treating mitochondrial diseases," said Falk.

At the very least, added Falk, the current study increases basic understanding of the biology of mitochondrial disease. She noted that continuing research building on her team's findings may set the stage for eventual clinical trials using this approach.


'/>"/>

Contact: Dana Mortensen
Mortensen@email.chop.edu
267-426-6092
Children's Hospital of Philadelphia
Source:Eurekalert

Related medicine news :

1. New clues found linking larger animals to colder climates
2. Ghrelin mitigates liver fibrosis in animal models; regulates human fibrosis
3. ATTENTION: Pawty Animals Needed in Nashville, Tennessee
4. Second Dose of Gene Therapy for Inherited Blindness Proves Safe in Animal Studies
5. Promega - TOP srl Agreement Enables Live Animal Imaging for Cancer Studies
6. Delray Beach and Boca Raton Veterinarian Launches New Web Sites for Atlantic Animal Hospital
7. Gunther von Hagens BODY WORLDS of Animals Opening March 19 at the Neunkirchen Zoo
8. Scout's House™ Announces Nation's First Animal Physical Rehabilitation Therapy Consultation Service for Veterinarians
9. 'Animals' Keep Germs Away From Kids' Toothbrushes
10. Science Reveals Secrets of Animals Spots, Stripes
11. The effect of dietary supplements, acids and animal protein on gastrointestinal disorders
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/19/2017)... ... January 19, 2017 , ... ... has recently unveiled impressive transportable capabilities with their iMedHD2™ Portable Teleultrasound ... extension to RMT technology that delivers HD, dynamic, streaming ultrasound images and video ...
(Date:1/19/2017)... ... 19, 2017 , ... WholeHealth is announcing their participation in ... Andrew Petersen and Trish Henrie-Barrus will be present Saturday and Sunday in the ... , “We know it’s easy to get carried away when you’re having ...
(Date:1/19/2017)... Scotch Plains, NJ (PRWEB) , ... January 19, ... ... a board certified dermatologist by the American Board of Dermatology and fellowship trained ... Institute of the National Institutes of Health, Dr. Li completed his internship in ...
(Date:1/19/2017)... ... 2017 , ... Bio-Optronics Inc. is proud to announce the ... to seamlessly integrate and streamline the way researchers prepare and conduct patient visits. ... and improving efficiency significantly for users – a first in the CTMS industry. ...
(Date:1/19/2017)... San Antonio, Texas (PRWEB) , ... January 19, 2017 , ... ... entering the GenCure Tissue Donation Awareness Scholarship competition., The winner will earn a $1,000 ... media accounts. The competition begins Feb. 1, and the deadline is May 31, with ...
Breaking Medicine News(10 mins):
(Date:1/20/2017)... LONDON , January 20, 2017 Avillion ... the appointment of Mark Weinberg , MD MBA as Chief ... , USA . ... Dr Weinberg has spent more than 17 ... "top 20" pharma companies to micro-cap biotech. Over the course of ...
(Date:1/19/2017)... NEW YORK , Jan. 19, 2017 ... the Ophthalmic Devices Market? Which areas are going to ... you potential revenues to 2026, assessing data, trends, opportunities ... charts, and graphs. Discover the most lucrative areas in ... study lets you assess forecasted sales across the all ...
(Date:1/19/2017)... , Jan. 19, 2017 Conference Call and Webcast to ... ) today announced it will release results for the fourth quarter ... ... host a conference call at 4:30 PM ET on Wednesday, February ... full year 2016 financial results and other corporate activities. To participate ...
Breaking Medicine Technology: