philosopher
|
Open Questions
Can gene therpay cure tuberous complex?
Patients with tuberous sclerosis complex, a genetic disorder characterized by the growth of noncancerous tumors in multiple organs of the body, have limited treatment options. A team led by investigators at Massachusetts General Hospital (MGH) has now shown that gene therapy can effectively treat mice that express one of the mutated genes that cause the disease. The research is published in Science Advances.
The gene, called TSC2, codes for tuberin, a protein that acts to inhibit cell growth and proliferation. When mutations occur in TSC2, resulting in a lack of tuberin in cells, the cells enlarge and multiply, leading to the formation of tumors.
To restore the function of TSC2 and tuberin in a mouse model of tuberous sclerosis complex, researchers developed a form of gene therapy using an adeno-associated virus vector carrying the DNA that codes for a condensed form of tuberin (which fits within the vector's carrying capacity) and functions like the normal full-length tuberin protein. Mice with tuberous sclerosis complex had a shortened life span of about 58 days on average, and they showed signs of brain abnormalities consistent with those that are often seen in patients with the disease. When the mice were injected intravenously with the gene therapy treatment, however, their average survival was extended to 462 days, and their brains showed reduced signs of damage.
"Current treatments for tuberous sclerosis complex include surgery and/or lifelong treatment with drugs that cause immune suppression and potentially compromise early brain development. Therefore, there is a clear need to identify other therapeutic approaches for this disease," says co-lead author Shilpa Prabhakar, an investigator in the MGH departments of Neurology and Radiology. "Adeno-associated virus vectors have been used widely in clinical trials for many hereditary diseases with little to no toxicity, long-term action in nondividing cells, and improvement in symptoms," adds Prabhakar. She notes that benefits can be seen after a single injection, and some forms of the viral vector can efficiently enter the brain and peripheral organs after intravenous injection.
The U.S. Food and Drug Administration has approved a limited number of gene therapy products for use in humans, and the results from this study suggest that clinical trials are warranted to test the strategy's potential in patients with tuberous sclerosis complex.
Story Source:
Materials provided by Massachusetts General Hospital. Note: Content may be edited for style and length.
Journal Reference:
Pike-See Cheah, Shilpa Prabhakar, David Yellen, Roberta L. Beauchamp, Xuan Zhang, Shingo Kasamatsu, Roderick T. Bronson, Elizabeth A. Thiele, David J. Kwiatkowski, Anat Stemmer-Rachamimov, Bence György, King-Hwa Ling, Masao Kaneki, Bakhos A. Tannous, Vijaya Ramesh, Casey A. Maguire, Xandra O. Breakefield. Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin. Science Advances, 2021; 7 (2): eabb1703 DOI: 10.1126/sciadv.abb1703
Cite This Page:
MLA
APA
Chicago
Massachusetts General Hospital. "Gene therapy strategy found effective in mouse model of hereditary disease TSC." ScienceDaily. ScienceDaily, 9 January 2021. https://www.sciencedaily.com/releases/2021/01/210109152421.htm
RELATED TOPICS
Health & Medicine
Gene Therapy
Multiple Sclerosis Research
Diseases and Conditions
Genes
Personalized Medicine
Brain Tumor
Chronic Illness
Birth Defects
advertisement
RELATED TERMS
Gene therapy
Cancer
Esophageal cancer
BRCA2
Sleep disorder
Alzheimer's disease
Vector (biology)
BRCA1
RELATED STORIES
Tools Help Identify Patients at Risk for Autism Spectrum Disorders
July 17, 2017 — A tool intended to detect signs of autism in high-risk infants can be used to help identify and treat patients with tuberous sclerosis complex, a genetic disorder, who most need early intervention. ...
Liver Tumor Growth in Mice Slowed With New Chemo-Immunotherapy Treatment
Feb. 28, 2017 — Hepatocellular carcinoma is the most common form of liver cancer, but treatment options are limited and many patients are diagnosed in late stages when the disease can't be treated. Now, researchers ...
Noncoding Mutations Disrupt Cooperative Function of 'Gene Families' in Rare Genetic Disorder
Sep. 30, 2016 — Scientists say they are one step closer to understanding the genetic mechanism of a rare, complex, multiple-gene disorder called Hirschsprung’s disease. Their results suggest that many patients ...
Drug Reduces Seizure Frequency in Children With Tuberous Sclerosis Complex
Sep. 6, 2016 — The drug everolimus has been shown to significantly reduce the frequency of seizures in patients with treatment-resistant epilepsy and tuberous sclerosis complex (TSC) -- a genetic disease that ...
FROM AROUND THE WEB
ScienceDaily shares links with sites in the TrendMD network and earns revenue from third-party a
 9 day(s) ago
 Report
|
