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Study holds hope of treatment for deadly genetic disease MPS IIIB

Date:
September 29, 2014
Source:
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed)
Summary:
Researchers report they may have found a way to replace the missing enzyme that causes progressive damage to the brain in people with MPSIIIB. Officially known as mucopolysaccharidosis type IIIB or Sanfilippo Syndrome type B, the disease causes the accumulation of waste products in the cells, leading to progressive damage to the brain.
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MPS IIIB is a devastating and currently untreatable disease that causes progressive damage to the brain, leading to profound intellectual disability, dementia and death -- often before reaching adulthood.

Officially known as mucopolysaccharidosis type IIIB or Sanfilippo Syndrome type B, the disease causes the accumulation of waste products in the cells, leading to progressive damage to the brain. Patients with MPS IIIB lack a vital enzyme that is needed to break down long chains of sugars, known as mucopolysaccharides, leading these to accumulate in the cells.

Researchers reported today in the journal, Proceedings of the National Academy of Sciences of the United States of America, that they have found a way to replace the missing enzyme in the brains of disease models, opening the door to a potential treatment for MPS IIIB.

"Enzyme replacement therapy has been very successful in treating other forms of MPS but not MPS IIIB because the blood-brain barrier blocked delivery of the medication to the brain," said Patricia I. Dickson, MD, a Los Angeles Biomedical Research Institute (LA BioMed) lead researcher and one of the authors of the study. "By injecting a modified enzyme into the brain's left ventricle, we have found a way to bypass that barrier and deliver the needed enzyme to the brain. While more study is needed, this research holds great promise for the treatment of MPS IIIB."

Researchers at LA BioMed, the University of California, Los Angeles and BioMarin Pharmaceutical, Inc. administered a modified form of the missing enzyme, NAGLU, through the left ventricle of the brain. They found the modified enzyme was "taken up avidly" by cells in both the brain and the liver. The researchers reported that the modified enzyme reduced the pathological accumulation of heparan sulfate, a mucopolysaccharide, and other metabolites to normal or near-normal levels.


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Materials provided by Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed). Note: Content may be edited for style and length.


Journal Reference:

  1. S.-h. Kan, M. Aoyagi-Scharber, S. Q. Le, J. Vincelette, K. Ohmi, S. Bullens, D. J. Wendt, T. M. Christianson, P. M. N. Tiger, J. R. Brown, R. Lawrence, B. K. Yip, J. Holtzinger, A. Bagri, D. Crippen-Harmon, K. N. Vondrak, Z. Chen, C. M. Hague, J. C. Woloszynek, D. S. Cheung, K. A. Webster, E. G. Adintori, M. J. Lo, W. Wong, P. A. Fitzpatrick, J. H. LeBowitz, B. E. Crawford, S. Bunting, P. I. Dickson, E. F. Neufeld. Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB. Proceedings of the National Academy of Sciences, 2014; DOI: 10.1073/pnas.1416660111

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Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed). "Study holds hope of treatment for deadly genetic disease MPS IIIB." ScienceDaily. ScienceDaily, 29 September 2014. <www.sciencedaily.com/releases/2014/09/140929180306.htm>.
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed). (2014, September 29). Study holds hope of treatment for deadly genetic disease MPS IIIB. ScienceDaily. Retrieved April 16, 2024 from www.sciencedaily.com/releases/2014/09/140929180306.htm
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed). "Study holds hope of treatment for deadly genetic disease MPS IIIB." ScienceDaily. www.sciencedaily.com/releases/2014/09/140929180306.htm (accessed April 16, 2024).

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