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:12/2/2016)... (PRWEB) , ... December 02, 2016 , ... On Dec. ... the Hard Rock Hotel San Diego honoring the 2016 MPN Heroes—eight individuals who have ... (MPNs) by going above and beyond the standard of care, demonstrating leadership within the ...
(Date:12/2/2016)... ... , ... Center for Autism and Related Disorders (CARD) Portland today announced plans ... (ASD) and other developmental disabilities. The group, which is being launched with the help ... opportunity to share stories and advice, seek help, and continue their education on how ...
(Date:12/2/2016)... , ... December 02, 2016 , ... ... Beverly Hills, California, will be included in the 2016 “Guide to America’s Top ... professionals based on the amalgamation of their education, experience, and professional associations. ...
(Date:12/2/2016)... (PRWEB) , ... December 02, 2016 , ... ... veterinarian diagnostic imaging systems and the first company to offer robotic ... a Heart at their tradeshow booth # 941 for the American Association of ...
(Date:12/2/2016)... CA (PRWEB) , ... December 02, 2016 , ... ... care journeys, announced today that it has raised $6.0 million in an initial ... by Clarify Health’s conviction that patients and their caregivers can receive far better ...
Breaking Medicine News(10 mins):
(Date:12/2/2016)... In the first ever attempt to include ... from C. sativa, the Hebrew University in Jerusalem, the ... II , the Universita` del Piemonte Orientale and Phytoplant ... and unified inventory of phytocannabinoids of different botanical origin. ... remarkable chemical and structural diversity of phytocannabinoids. As a ...
(Date:12/2/2016)... bioLytical Laboratories, ein Weltführer bei schnellen Tests für Infektionskrankheiten, hat sein ... eingeführt. Continue Reading ... ... , ... ) bioLytical wurde durch die Clinton Health Access ...
(Date:12/2/2016)... N.J. , Dec. 2, 2016   CytoSorbents ... immunotherapy leader commercializing its European Union approved CytoSorb ... and cardiac surgery patients worldwide, announced that Dr. ... the 9th Annual LD Micro Main Event ... , 2016 at the Luxe Sunset Boulevard Hotel in ...
Breaking Medicine Technology: