Navigation Links
Gene therapy cures a severe paediatric neurodegenerative disease in animal models

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
Universitat Autonoma de Barcelona

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. 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:
(Date:11/26/2015)... ... 2015 , ... The Catalent Applied Drug Delivery Institute today ... dose form selection in early phase drug development. The first of these is ... together the UK’s emerging life sciences companies, corporate partners, and investors, at Milton ...
(Date:11/26/2015)... ... November 26, 2015 , ... PRMA Plastic Surgery is updating ... our surgeons performed their 6,000th free flap breast reconstruction surgery! , “What an accomplishment ... day excited to rebuild lives and it’s an honor to have served all of ...
(Date:11/26/2015)... ... 26, 2015 , ... Pixel Film Studios brings Final Cut ... Vintage. This newly styled ProTrailer pack comes with 30 all-new vintage-inspired designs, with ... users limitless opportunities to stylize and create designs quickly and easily, all within ...
(Date:11/26/2015)... , ... November 26, 2015 , ... Indosoft Inc., developer ... of an application server to improve system efficiency and reliability. , The new Q-Suite ... of these standards, the system avoids locking itself into a specific piece of software ...
(Date:11/25/2015)... ... November 25, 2015 , ... As part of a global ... attracts volunteers together who want to combine talents and resources to help create ... the process. The non-profit launched its first major fundraiser on November 6, 2015 ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... , November 26, 2015 ... addition of the "2016 Future Horizons ... of Abuse Testing Market: Supplier Shares, Country ... report to their offering. --> ... the "2016 Future Horizons and Growth ...
(Date:11/26/2015)... 26, 2015 ... of the  "2016 Future Horizons and ... Drug Monitoring (TDM) Market: Supplier Shares, ... Opportunities"  report to their offering.  ... the addition of the  "2016 Future ...
(Date:11/26/2015)... Nov. 26, 2015 Research and Markets ... the "2016 Future Horizons and Growth Strategies ... Supplier Shares, Country Segment Forecasts, Competitive Intelligence, Emerging ... --> --> This ... the Italian therapeutic drug monitoring market, including emerging ...
Breaking Medicine Technology: