Navigation Links
Gene therapy cures a severe paediatric neurodegenerative disease in animal models
Date:7/2/2013

Sanfilippo Syndrome type A, or Mucopolysaccharidosis type IIIA (MPSIIIA), is a neurodegenerative disease caused by mutations in the gene that encodes the enzyme sulfamidase. Mutations in this gene lead to deficiencies in the production of the enzyme, which is essential for the breakdown of substances known as glycosaminoglicans. If these substances are not broken down, they accumulate in the cells and cause neuroinflammation and organ dysfunction, mainly in the brain, but also in other parts of the body. Children born with this mutation are diagnosed from the age of 4 or 5. They suffer neurodegeneration, causing mental retardation, aggressiveness, hyperactivity, sleep alterations, loss of speech and motor coordination, and they die in adolescence.

A team of researchers headed by the director of the UAB's Centre for Animal Biotechnology and Gene Therapy (CBATEG), Ftima Bosch, has developed a gene therapy treatment that cures this disease in animal models, with pre-clinical studies in mice and dogs. The treatment consists of a single surgical intervention in which an adenoassociated viral vector is injected into the cerebrospinal fluid, the liquid that surrounds the brain and the spinal cord. The virus, which is completely harmless, genetically modifies the cells of the brain and the spinal cord so that they produce sulfamidase, and then spreads to other parts of the body, like the liver, where it continues to induce production of the enzyme.

Once the enzyme's activity is restored, glycosaminoglican levels return to normal for life, their accumulation in cells disappears, along with the neuroinflammation and dysfunctions of the brain and other affected organs, and the animal's behaviour and its life expectancy return to normal. While mice with the disease lived only up to 14 months, those given the treatment survived as long as healthy ones.

This is a joint project between the UAB and the pharmaceutical company Esteve. The study has been published in the online edition of The Journal of Clinical Investigation.


'/>"/>

Contact: Fàtima Bosch
Fatima.bosch@uab.cat
34-935-814-182
Universitat Autonoma de Barcelona
Source:Eurekalert

Related medicine news :

1. Pufferfish neurotoxin may serve as treatment for cancer therapy related pain
2. A circuitous route to therapy resistance
3. Vein Therapy News Magazine Publishes Laser Facelift Article by Dr. Robin Fleck
4. Rural women less likely to get radiation therapy after lumpectomy for breast cancer
5. New understanding of why anti-cancer therapy stops working at a specific stage
6. Past Life Regression Therapy: Valid Treatment or Ridiculous Foo Foo; Researcher and Author Dr. Heather Friedman Rivera on Dr. Carol Francis Radio Talk Show
7. Genetics of cervical cancer raise concern about antiviral therapy in some cases
8. PREFERRED Therapy Providers, Inc. and WellCare of Arizona Finalize Their Agreement to Offer Medicare Advantage Plan to PREFERRED's Arizona Provider Network
9. June's Release of CARD's "Mission Possible: Portraits of Hope" Features Southern California Child and His Remarkable Progress with Intensive Autism Therapy
10. Filtersfast.com Launches Spazazz Aromatherapy Spa & Bath Crystals
11. Newly Released Continuing Education Courses Provide Physical and Occupational Therapy Professionals With Opportunities To Expand Skill Sets
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/22/2017)... ... March 22, 2017 , ... Sam & Associates Insurance ... planning, and related services to residents of the region, is embarking on a ... species and wild lands. , Endangered Species International is committed to ending the ...
(Date:3/22/2017)... ... March 22, 2017 , ... Donor Network West, the federally-designated ... Inc., announced the future opening of a CLIA certified dedicated laboratory in northern ... to determine the suitability of potential organ and tissue donors. This partnership ...
(Date:3/22/2017)... ... March 22, 2017 , ... An intensive search of the medical ... reports Leslie Norins, MD, PhD. He says investigating this possibility, is important ... virus and in new infections with HIV. , His findings appear on ...
(Date:3/22/2017)... ... March 22, 2017 , ... Intrinsic Imaging, LLC, an ... and operational excellence in oncology clinical trials, proudly announces today that it has ... non-small cell lung cancer and small cell lung cancer. , Throughout this trial, ...
(Date:3/22/2017)... ... March 22, 2017 , ... The Jim Shortridge ... families and business owners, is joining the Teen Recovery Solutions organization in a ... , A growing number of Oklahoma teens and adolescents face problems from drugs, ...
Breaking Medicine News(10 mins):
(Date:3/22/2017)... Hologic, Inc. (Nasdaq: HOLX ) ... Cynosure, Inc., a leader in medical aesthetics systems and ... "We are pleased to complete our acquisition of Cynosure, ... and the entire Cynosure team to achieve even ... market," said Steve MacMillan , Hologic,s Chairman, President ...
(Date:3/22/2017)... FinancialBuzz.com News Commentary ... is strongly contributing to job creation. A recent report ... for the cannabis industry, projects that by 2020, the ... million jobs for American workers. The legal cannabis market ... is projected to grow at a compound annual growth ...
(Date:3/22/2017)... 22, 2017   Upsher-Smith Laboratories, Inc . (Upsher-Smith) today ... mg, 50 mg and 75 mg, the generic equivalent to ... The clomipramine hydrochloride capsules market had U.S. sales ... 2016, according to IMS Health. ... "Upsher-Smith has long been recognized within ...
Breaking Medicine Technology: