Navigation Links
Researchers gain insight into mechanism underlying Huntington's
Date:7/13/2009

LEXINGTON, Ky. (July 13, 2009) Researchers at the University of Kentucky Markey Cancer Center and Graduate Center for Toxicology (GCT) have gained new insight into the genetic mechanisms underlying Huntington's disease and other neurodegenerative or neuromuscular disorders caused by trinucleotide repeats (or TNRs) in DNA.

The research, performed in the laboratory of Dr. Guo-Min Li, UK professor of toxicology and biochemistry and the Madeline James & Edith Gardner Distinguished Chair in Cancer Research, examined the mechanisms involved in the development of a specific type of genetic mutation known as trinucleotide repeat expansions. Diseases associated with these mutations, including Huntington's disease, are called trinucleotide repeat disorders.

Findings were published today in Nature Structural & Molecular Biology (http://www.nature.com/nsmb/index.html). GCT research scientist Caixia Hou, student Nelson Chan, and professor Liya Gu are coauthors of the study.

"Mutations the genetic changes in DNA can lead to many different types of disease, depending on where and in what manner they occur," Li said. "How these genetic changes escape normal DNA repair systems and become ingrained in an affected gene pool leading to familial disorders has been a longstanding subject of study in my laboratory at the UK Medical Center."

The expansion of TNRs at unique sites in the human genome is associated with at least 15 familial, neurodegenerative or neuromuscular disorders. The mechanism of TNR instability is poorly understood. However, because DNA expansions require DNA synthesis, DNA replication and/or DNA repair must be involved.

Two key TNRs, CAG and CTG repeats associated with Huntington's disease and myotonic dystrophy, respectively tend to form hairpin structures via strand slippage in the newly synthesized or "nicked" DNA strand during DNA synthesis associated with DNA replication and/or repair. These hairpin structures are highly thermo-stable and do not "melt" under normal physiologic conditions, and thus they are perceived as "fixed" in the DNA once formed, thereby leading to TNR expansions.

Using an extract of human cells, Li and his colleagues identified a novel DNA repair pathway referred to as DNA hairpin repair (HPR), which specifically targets TNR hairpin removal in the daughter DNA strand, ensuring the fidelity of the TNR sequences in the parental strand. It is proposed that defects or inadequacies in the HPR system may be responsible for TNR instability in the disease state.


'/>"/>

Contact: Keith Hautala
keith.hautala@uky.edu
859-323-6363
University of Kentucky
Source:Eurekalert

Related biology news :

1. Alzheimers disease drug treats traumatic brain injury, report GUMC researchers
2. UTSA infectious disease researchers advancing vaccine against Valley fever
3. Canadian researchers set to study impact of nanomaterials on aquatic ecosystems
4. Ben-Gurion U. researchers reveal connection between cancer and human evolution
5. University of Leicester researchers discover new fluorescent silicon nanoparticles
6. OJ worse for teeth than whitening says Eastman Institute researchers
7. Stanford researchers publish comprehensive model for medical device development
8. Researchers see evidence of memory in the songbird brain
9. Researchers to reveal agings origins on global stage
10. Researchers observe single protein dimers wavering between two symmetrically opposed structures
11. Caltech researchers explore how cells reconcile mixed messages in decisions about growth
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/16/2016)... 16, 2016 The global ... to reach USD 1.83 billion by 2024, according ... Inc. Technological proliferation and increasing demand in commercial ... to drive the market growth.      ... The development of advanced multimodal techniques for biometric ...
(Date:6/3/2016)... LONDON , June 3, 2016 /PRNewswire/ ... Transport Management) von Nepal ... ,Angebot und Lieferung hochsicherer geprägter Kennzeichen, einschließlich ... weltweit führend in der Produktion und Implementierung ... an der Ausschreibung im Januar teilgenommen, aber ...
(Date:5/24/2016)... facilitates superior patient care by providing unparalleled technology to leaders of the medical imaging ... product recently added to the range of products distributed by Ampronix. Photo ... ... ... News ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... ... June 27, 2016 , ... Rolf K. Hoffmann, former senior ... the University of North Carolina Kenan-Flagler Business School effective June 27. ... Kenan-Flagler, with a focus on the school’s international efforts, leading classes and participating ...
(Date:6/24/2016)... ... June 24, 2016 , ... While the majority of commercial spectrophotometers ... 5000 and the 6000i models are higher end machines that use the more unconventional ... spectrophotometer’s light beam from the bottom of the cuvette holder. , FireflySci has ...
(Date:6/23/2016)... , June 23, 2016 /PRNewswire/ - FACIT has ... Ontario biotechnology company, Propellon Therapeutics Inc. ... and commercialization of a portfolio of first-in-class WDR5 ... targets such as WDR5 represent an exciting class ... in precision medicine for cancer patients. Substantial advances ...
(Date:6/23/2016)... , June, 23, 2016  The Biodesign Challenge ... envision new ways to harness living systems and biotechnology, ... Art (MoMA) in New York City ... 130 participating students, showcased projects at MoMA,s Celeste Bartos ... Paola Antonelli , MoMA,s senior curator of architecture and ...
Breaking Biology Technology: