Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Single Gene Mutation Linked to Neurological Disorders

Published: Wednesday, October 16, 2013
Last Updated: Wednesday, October 16, 2013
Bookmark and Share
Mutation could offer insights into Alzheimer’s, Parkinson’s and Huntigton’s Diseases.

A research team says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer's, Parkinson's and Huntington's diseases.

The findings, published in the Oct.9 issue of the journal PLOS ONE, provide the first experimental picture of how gene expression errors impair the ability of stem cells to produce normal neurons, resulting instead in neurological disease. More broadly, they indicate that at least some distinctly different neurodevelopmental and neurodegenerative disorders share basic, causative defects.

The scientists say that understanding defects in Lesch-Nyhan could help identify errant processes in other, more common neurological disorders, perhaps pointing the way to new kinds of therapies.

Lesch-Nyhan syndrome is caused by defects in the HPRT1 gene (short for hypoxanthine guanine phosphoribosyltransferace, the enzyme it encodes), a gene that is well-known for its essential "housekeeping duties," among them helping generate purine nucleotides - the building blocks of DNA and RNA.

Mutations in the gene result in deficiencies in the HPRT enzyme, leading to defective expression of the neurotransmitter dopamine and subsequent abnormal neuron function. HPRT mutation is known to be the specific cause of Lesch-Nyhan, an inherited neurodevelopmental disorder characterized by uncontrollable repetitive body movements, cognitive defects and compulsive self-mutilating behaviors. The disorder was first described in 1964 by medical student Michael Lesch and his mentor, William Nyhan, MD, professor emeritus at UC San Diego School of Medicine.

Using mouse embryonic stem cells modified to be HPRT-deficient, Friedmann and colleagues discovered that the cells do not develop normally. Instead, they differentiate from full-fledged neurons into cells that resemble and partially function as neurons, but also perform functions more typical of glial cells, a kind of supporting cell in the central nervous system. In addition, they noted that HPRT deficiency causes abnormal regulation of many cellular functions controlling important operational and reproduction mechanisms, DNA replication and repair and many metabolic processes.

"We believe that the neural aberrations of HPRT deficiency are the consequence of these combined, multi-system metabolic errors," said Friedmann. "And since some of these aberrations are also found in other neurological disorders, we think they almost certainly play some role in causing the neurological abnormalities in diseases like Alzheimer's, Parkinson's, Huntington's and possibly others. That makes them potential therapeutic targets for conditions that currently have limited or no treatments, let alone cures."

The task now is to further parse and better understand the many pathways that cause abnormal brain and brain cell development, and how those pathways are also disturbed in other neurological disorders. Those defects will probably not affect HPRT directly, said Friedmann, but rather will correspond to some of the same metabolic and genetic errors that occur as a result of HPRT deficiency. Once those pathways are identified, they may become good targets for more effective forms of therapy.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 4,000+ scientific posters on ePosters
  • More Than 5,300+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Genetics Control Regenerative Properties Of Stem Cells
Researchers define how genetic factors control regenerative properties of blood-forming stem cells.
Thursday, December 08, 2016
RNA-Binding Proteins Role in ALS Revealed
Researchers describe how damage to RNA-binding protein contributes to ALS, isolating a possible therapeutic target.
Monday, October 24, 2016
Zika Virus Infection Alters Human and Viral RNA
Researchers have discovered that Zika infections results in human and viral genetic modification.
Monday, October 24, 2016
Genome Sequencing May Help Avert Banana Armageddon
Researchers at the University of California, Davis, and in the Netherlands have discovered how three fungal diseases have evolved into a lethal threat to the world’s bananas.
Friday, August 12, 2016
‘Human-on-a-Chip’ Could Replace Animal Testing
Researchers are developing a “human-on-a-chip,” a miniature external replication of the human body, integrating biology and engineering with a combination of microfluidics and multi-electrode arrays.
Monday, June 13, 2016
Unveiling the Complexity of Mysterious Protein Folding
Imagine trying to reverse engineer a car when all you have is a finished product or a box full of parts — no instructions.
Wednesday, June 01, 2016
Study Identifies How Brain Connects Memories Across Time
UCLA Neuroscientists have boost ability of aging brain to recapture links between related memories.
Tuesday, May 31, 2016
Transcription Factor Isoforms Implicated in Colon Diseases
UC Riverside study explains how distribution of two forms of a transcription factor in the colon influence risk of disease.
Thursday, May 19, 2016
An E.coli Detector May be in Your Hands Soon
Hand-held device that can be used to detect a variety of pathogens—including foodborne pathogens like E. coli—at all stages in the food supply chain, from fields to restaurants may be available soon.
Monday, May 16, 2016
Fructose Alters Hundreds of Brain Genes
UCLA scientists report that diet rich in omega-3 fatty acids can reverse the damage.
Tuesday, April 26, 2016
Study Yields the Key to Effective Personalized Medicine
A team of UCLA bioengineers and surgeons has taken a major step toward making personalized medicine a reality.
Monday, April 11, 2016
Tracking RNA in Live Cells
Technique may open doors to new treatments for many conditions, from cancer to autism.
Friday, March 18, 2016
Cat Stem Cell Therapy Gives Humans Hope
By the time Bob the cat came to the UC Davis veterinary hospital, he had used up most of his nine lives.
Monday, February 08, 2016
Crowdfunding the Fight Against Cancer
From budding social causes to groundbreaking businesses to the next big band, crowdfunding has helped connect countless worthy projects with like-minded people willing to support their efforts, even in small ways. But could crowdfunding help fight cancer?
Monday, February 08, 2016
Toxic Pollutants Found in Fish Across the World's Oceans
Scripps researchers' analysis shows highly variable pollutant concentrations in fish meat.
Friday, January 29, 2016
Scientific News
Big Genetics in BC: The American Society for Human Genetics 2016 Meeting
Themes at this year's meeting ranged from the verification, validation, and sharing of data, to the translation of laboratory findings into actionable clinical results.
Stem Cells in Drug Discovery
Potential Source of Unlimited Human Test Cells, but Roadblocks Remain.
Automated Low Volume Dispensing Trends
Gain a better understanding of the current and future market requirements for fully automated LVD systems.
Personality Traits, Psychiatric Disorders Linked to Specific Genomic Locations
Researchers have unearthed genetic correlations between personality traits and psychiatric disorders.
Forensic 3D Documentation of Skin Injuries
In this study, the validity of using photogrammetry for documenting injuries in a pathological context was demonstrated.
3-D Printed Dog’s Nose Improves Vapor Detection
By mimicking how dogs get their whiffs, a team of government and university researchers have demonstrated that “active sniffing” can improve by more than 10 times the performance of current technologies that rely on continuous suction to detect trace amounts of explosives and other contraband.
New Markers for Forensic Body-fluid Identification
University of Bonn researchers have successfully identified specific Micro-RNA signatures to help forensically identify body fluids.
Genetics Control Regenerative Properties Of Stem Cells
Researchers define how genetic factors control regenerative properties of blood-forming stem cells.
Major Neuroscience Initiative Launched
Tianqiao and Chrissy Chen Institute invest $115 million to further expand neuroscience research, while Caltech construct $200 million biosciences complex.
Making It Personal
Cancer vaccine linked to increased immune response against leukemia cells.
Scroll Up
Scroll Down
Skyscraper Banner

SELECTBIO Market Reports
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
4,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,300+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!