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

NIH Researchers Identify Candidate Drug to Treat Batten Disease

Published: Tuesday, October 01, 2013
Last Updated: Tuesday, October 01, 2013
Bookmark and Share
The drug, tested in mice, was found to slow the loss of coordination seen in the disorder extending the animals’ life span.

Researchers at the National Institutes of Health have identified a potential new drug that could help in the treatment of a form of Batten disease, a fatal childhood disorder. 

The drug is derived from hydroxylamine, a molecule chemically similar to ammonia. Hyroxylamine is toxic, but a slight change in the molecule’s chemical structure results in a non-toxic molecule, called NtBuHA, short for N-(tert-Butyl-Hydroxylamine).

The term Batten disease refers to a group of disorders resulting in deterioration of the nervous system. These disorders occur in 1 of every 12,500 births, according to the study authors.

“The NIH researchers have found a promising lead for treating a devastating disease that has defied all attempts to treat it,” said Constantine A. Stratakis, M.D., director of the Division of Intramural Research at the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.

The researchers hope NtBuHA will be useful for treating a particular subtype of the disease, infantile Batten disease. With infantile Batten disease, children appear normal at birth, but experience a gradual, but steady, loss of brain tissue. By 11 to 18 months, they experience difficulty with physical coordination and begin to lose their vision. By age 4, they go blind and have no apparent brain activity. They may live in a vegetative state for several more years before dying.

Children with infantile Batten disease have a genetic deficiency of an enzyme, PPT1 (palmitoyl-protein thioesterase-1). Ordinarily PPT1 breaks down ceroid, a waxy substance. Without PPT1, ceroid builds up in brain cells, and results in infantile Batten disease. The researchers knew that the compound hydroxylaminemimics the function of the PPT1 enzyme. However, the compound is also toxic. After testing a panel of chemically modified hydroxylamines, they found that NtBuHA could mimic PPT1 in cultured cells from infantile Batten patients, preventing the waxy buildup, but without hyroxylamine’s toxic effects.

Next, the researchers tested NtBuHA on a strain of mice genetically modified to lack the PPT1 enzyme. They added NtBuHA to the animals’drinking water and found that it reached the animals’ brains, where it broke down and depleted the waxy deposits. Although NtBuHA did not prevent all of the damage that typically occurs in the mouse form of the disease, the waxy buildup was greatly reduced in the treated mice as compared to the untreated mice. The researchers found that NtBuHA protected the neurons in the animals’ brains, slowed the deterioration in motor coordination and extended the animals’ life span.

“We hope to test NtBuHA as a possible therapy for infantile Batten disease,” said senior author Anil B. Mukherjee, M.D., Ph.D., head of the Section on Developmental Genetics at the NICHD. The researchers are currently working to gain the approval required for testing such new drugs in clinical trials with patients.

Dr. Mukherjee collaborated with first author Chinmoy Sarkar, Ph.D., Goutam Chandra, Ph.D., Shyiong Peng, Ph.D., Zhongjian Zhang, M.D., Ph.D., and Aiyi Liu, Ph.D., all colleagues at the NICHD.

Their findings appear in Nature Neuroscience.

Dr. Mukherjee and his colleagues are currently evaluating two other drugs, Cystagon and Mucomyst, for the treatment of patients with infantile Batten disease. Like NtBuHA, these drugs also break down the waxy deposits in the disease. It is possible that combining multiple drugs with activity against ceroid may one day provide a more effective treatment against these disorders, Dr. Mukherjee added.


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 3,200+ scientific posters on ePosters
  • More Than 4,800+ 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

Connectome Map More Than Doubles Human Cortex’s Known Regions
Researchers at NIH have developed software that automatically detects the “fingerprint” of each of these areas in an individual’s brain scans.
Saturday, July 23, 2016
Uncovering a New Principle in Chemotherapy Resistance in Breast Cancer
The NIH study has revealed an entirely unexpected process for acquiring drug resistance that bypasses the need to re-establish DNA damage repair in breast cancers that have mutant BRCA1 or BRCA2 genes.
Thursday, July 21, 2016
Brain Circuits Helps People Cope With Stress
Researchers at NIH have identified brain patterns in humans that appear to underlie “resilient coping,” to stress that help some people handle stressful situations better than others.
Wednesday, July 20, 2016
NIH Investment Into HIV Research Expands
Funding has been awarded to six research teams to lead collaborative investigations worldwide toward an HIV cure.
Thursday, July 14, 2016
Treatment Advancement for Gaucher and Parkinson's Diseases
NIH scientists identify molecule that may act as a possible treatment of neurological diseases.
Wednesday, July 13, 2016
Use it or Lose it: Visual Activity Regenerates Links Between Eye, Brain
The mouse study is first to show visual stimulation helps re-wire visual system and partially restores sight.
Tuesday, July 12, 2016
NIH Funds Million-Person Medicine Study
NIH announces $55million in awards to build foundations for ambitious Cohort Program that aims to engage 1 million participants in lifestyle, environments and genetics research.
Friday, July 08, 2016
Largest-Ever Study of Breast Cancer Genetics in Black Women
The study will identify genetic factors that may underlie breast cancer disparities.
Thursday, July 07, 2016
NIH-Funded Center to Study Inefficiencies in Clinical Trials
Researchers at the Duke Clinical Research Institute (DCRI) and Vanderbilt University Medical Center (VUMC) have received a major federal grant to study how multisite clinical trials of new drugs and therapies in children and adults can be conducted more rapidly and efficiently.
Thursday, July 07, 2016
NIH Funds Zika Virus Study Involving U.S. Olympic Team
Researchers will monitor potential Zika virus exposure among a subset of athletes traveling to Brazil.
Wednesday, July 06, 2016
PREVAIL Treatment Trial for Men with Persistent Ebola Viral RNA
The six-month study will enroll 60 to 120 EVD survivors.
Wednesday, July 06, 2016
Implementation Science Approaches to Reduce Mother-to-Child HIV Transmission
The NIH study will investigate best practices to ease major disease burden in Sub-Saharan Africa.
Friday, July 01, 2016
Significant Expansion Of Data Available In The Genomic Data Commons
Cancer genomic profile information from 18,000 adult cancer patients will be added to the database.
Wednesday, June 29, 2016
Some Women With PCOS May Have Adrenal Disorder
Researchers at NIH have found that a subgroup of women with PCOS, a leading cause of infertility, may produce excess adrenal hormones.
Tuesday, June 28, 2016
Manufactured Stem Cells To Advance Clinical Research
Clinical-grade cell line will enable development of new therapies and accelerate early-stage clinical research.
Tuesday, June 28, 2016
Scientific News
Liquid Biopsies: Miracle Diagnostic or Next New Fad?
Thanks to the development of highly specific gene-amplification and sequencing technologies liquid biopsies access more biomarkers relevant to more cancers than ever before.
Connectome Map More Than Doubles Human Cortex’s Known Regions
Researchers at NIH have developed software that automatically detects the “fingerprint” of each of these areas in an individual’s brain scans.
Discovered Through ‘Big Data’ Analysis
Researchers at the SBP have identified over 100 new genetic regions that affect the immune response to cancer.
Human Stem Cells to Rapidly Generate Bone, Heart Muscle
A new study shows that combining positive and negative signals can quickly and efficiently steer stem cells down complex developmental pathways to become specialized tissues that could be used in the clinic.
New Mechanism of Tuberculosis Infection
Researchers at UTSW Medical Center have identified a new way that tuberculosis bacteria get into the body, revealing a potential therapeutic angle to explore.
New Therapeutic Targets For Small Cell Lung Cancer Identified
Researchers at UTSW Medical Center have identified a protein termed ASCL1 that is essential to the development of small cell lung cancer and that, when deleted in the lungs of mice, prevents the cancer from forming.
Eliminating Doubt in Criminal Investigations
New ASU certificate to help curb error, misunderstanding in the quest for justice.
Determination of 13 Organic Toxicants in Human Blood
Researchers have utilised liquid-liquid extraction coupling HPLC-MS/MS to identify and quantify organic toxicants in human blood.
A Novel Cell Culture Model For Forensic Biology Experiments
Researchers have developed a new cell culture model which provides an efficient research tool in forensic biology.
Rhino DNA Bank Aids Anti-Poaching Fight
At the University of Pretoria's Veterinary Genetics Laboratory (VGL) at Onderstepoort, Dr Cindy Harper and her team have developed a ground-breaking technique to collect and catalogue DNA from rhinos and rhino horns.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
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
3,200+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!