Navigation Links
Breakthrough in Niemann-Pick Type C research reported by Notre Dame and Cornell scientists
Date:3/21/2011

A paper announcing a breakthrough discovery in the fight against Niemann-Pick Type C, coauthored by Olaf Wiest and Paul Helquist of the University of Notre Dame's Department Chemistry & Biochemistry and Frederick Maxfield, Chair of Biochemistry at Cornell University Weill College of Medicine, appears in the Proceedings of the National Academy of Sciences this week. The paper shows how use of a histone deacetylase inhibitor correct the damage done by the genetic disorder and allowed once-diseased cells to function normally.

Niemann-PickType C (NPC) involves a genetic flaw that keeps cells from using lipids appropriately and leaves the lipids trapped in the cell. Brain cells are especially impacted, and destruction of brain cells typically kills victims by their teen years and there is currently no treatment available in the U.S. NPC is an inherited cholesterol metabolism disorder that strikes one in every 150,000 children. It has been referred to by the National Institutes of Health as "childhood Alzheimer's" because of similarities in the brains of NPC and Alzheimer's disease patients.

Three of the four grandchildren of former Notre Dame head football coach Ara Parseghian died of NPC, and the University has been involved in research on the disorder for years. Last year, it formally united with the Parseghian Foundation, which sponsored this work.

Last summer, Notre Dame College of Science Dean Gregory Crawford and his wife Renate bicycled 2,300 miles from Tucson to Notre Dame to raise awareness of the newly strengthened partnership with the Parseghian Foundation. Notre Dame's Center for Rare and Neglected Diseases works to develop therapies and outreach efforts for people suffering from conditions, like NPC, that have bee3n largely ignored by pharmaceutical companies.

A team of led by Wiest and Helquist at Notre Dame and Maxfield at Cornell, uncovered evidence that histone deacetylase inhibitors correct NPC's genetic flaw. Detailed images obtained at Cornell by Maxfield's group gave vivid evidence of the drug's effectiveness, showing how NPC cells became indistinguishable from normal human cells after treatment with the drug. The histine deacetylase inhibitors have a wide range of potential uses, from rare diseases, the focus at Notre Dame, to several forms of cancer, including leukemia, where they can increase the number of bone marrow cells.

Several of the compounds studied are shown to be safe in advanced clinical studies of cancer and one compound is currently approved by the FDA.

"Our biggest single emphasis the last few years has been Niemann-Pick among these rare diseases," Helquist said. "We developed several processes for the efficient preparation of these types of drugs. There's a stream of publications and also a stream of patents starting in June 2007 and continuing this year."

"If the results in human cells can be confirmed in clinical trials, the fact that the histone deacetylase inhibitors are already in advanced clinical trials or even approved drugs could greatly accelerate the development of a treatment for this devastating disease."


'/>"/>

Contact: Olaf Wiest
owiest@nd.edu
574-631-5876
University of Notre Dame
Source:Eurekalert

Related biology news :

1. Breakthrough optical technology to assess colon cancer risk, accuracy
2. Sandia, SES win Popular Mechanics Breakthrough Innovator Award
3. NC State finds new nanomaterial could be breakthrough for implantable medical devices
4. Adult stem cell breakthrough
5. A scientific breakthrough on the control of the bad cholesterol
6. Fly guy makes memory breakthrough
7. Researchers make breakthrough in the production of double-walled carbon nanotubes
8. Key to future medical breakthroughs is systems biology, say leading European scientists
9. World breakthrough in treating premature babies
10. Mount Sinai Hospital researcher makes stem cell breakthrough
11. Stem cell breakthrough gives new hope to sufferers of muscle-wasting diseases
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/2/2016)... Feb. 2, 2016  BioMEMS devices deployed ... focused on medical screening and diagnostic applications, ... Wearable devices that facilitate and assure continuous ... movement are being bolstered through new opportunities ... signal acquisition coupled with wireless connectivity and ...
(Date:2/2/2016)... VIEW, Calif. , Feb. 2, 2016 /PRNewswire/ ... retinopathy market, Frost & Sullivan recognizes US-based Intelligent ... America Frost & Sullivan Award for New Product ... provider in North America , ... in the rapidly growing diabetic retinopathy market. The ...
(Date:1/27/2016)... , Jan. 27, 2016  Rite Track, Inc. a ... West Chester, Ohio announced today ... service staff, based in Austin, Texas ... ability to provide modifications, installations and technical support offerings ... CEO of PLUS, commented, "PLUS has provided world class ...
Breaking Biology News(10 mins):
(Date:2/3/2016)... , Feb. 3, 2016   ViaCyte, Inc ... the first pluripotent stem cell-derived islet replacement therapy ... clinical-stage development, today announced that ViaCyte and Janssen ... of Johnson & Johnson, have agreed to consolidate ... ViaCyte.  The agreement provides ViaCyte with an exclusive ...
(Date:2/3/2016)... Denmark , Feb. 3, 2016 Ascendis ... biotechnology company that applies its innovative TransCon technology to ... present at an upcoming investor conference.Event:2016 Leerink Partners Global ... NY Date:  , Wednesday, February 10, 2016 Time:  ... www.ascendispharma.com . --> An audio webcast ...
(Date:2/3/2016)... ... February 03, 2016 , ... Aerocom, a ... dedicated to the North American healthcare market. , Aerocom Healthcare, LLC will be ... The company will provide new pneumatic tube systems or expand existing systems within ...
(Date:2/3/2016)... ... 03, 2016 , ... Resilinc released online today ... nearly 750 unique supply chain notifications and alerts generated by its EventWatch ... risk management practitioners subscribe to the EventWatch service to receive early warnings and ...
Breaking Biology Technology: