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Very early treatment may be key to combatting inherited metabolic disorder

Date:
August 4, 2014
Source:
Wiley
Summary:
It is critical to treat lysosomal storage disorders early, before symptoms arise, a new study concludes. These genetic disorders, which are caused by the malfunction of enzymes that normally degrade various substances within cells, lead to numerous ailments including neurological problems.

Representative images of GM3 (A–C), LIMP II (D–F), GFAP (G–I), isolectin Bandieraea (Griffonia) simplicifolia (BSI-B4) (J–L) and ubiquitin (M–O) staining in the inferior colliculus of 6-week-old normal (A, D, G, J and M), MPS IIIA (B, E, H, K and N) and MPS IIIA + enzyme-treated (C, F, I, L and O) mice. The rhSGSH injection was administered at 3 weeks of age and images were taken at 3 weeks post-injection, i.e. at 6 weeks of age. Scale bar: image, 50 μm; inset, 5 μm (A–O).
Credit: Image courtesy of Wiley

A European Journal of Neuroscience study suggests that it is critical to treat lysosomal storage disorders early, before symptoms arise. These genetic disorders, which are caused by the malfunction of enzymes that normally degrade various substances within cells, lead to numerous ailments including neurological problems.

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Although few therapeutic options are available, clinical trials of treatments including lysosomal enzyme replacement are underway. Researchers who used enzyme replacement to treat mice with early, mid- and later-stages of a lysosomal storage disease found that treatment was most effecting in mice with very early-stage disease. Once symptoms arose, treatment was ineffective.

"Until newborn screening is available world-wide for these conditions, and children are diagnosed prior to symptoms appearing, it is critical that we continue to gather information regarding the reversibility, or not, of disease-based degenerative changes," said senior author Dr. Kim Hemsley.


Story Source:

The above story is based on materials provided by Wiley. Note: Materials may be edited for content and length.


Journal Reference:

  1. Sofia Hassiotis, Helen Beard, Amanda Luck, Paul J. Trim, Barbara King, Marten F. Snel, John J. Hopwood, Kim M. Hemsley. Disease stage determines the efficacy of treatment of a paediatric neurodegenerative disease. European Journal of Neuroscience, 2014; 39 (12): 2139 DOI: 10.1111/ejn.12557

Cite This Page:

Wiley. "Very early treatment may be key to combatting inherited metabolic disorder." ScienceDaily. ScienceDaily, 4 August 2014. <www.sciencedaily.com/releases/2014/08/140804123315.htm>.
Wiley. (2014, August 4). Very early treatment may be key to combatting inherited metabolic disorder. ScienceDaily. Retrieved November 27, 2014 from www.sciencedaily.com/releases/2014/08/140804123315.htm
Wiley. "Very early treatment may be key to combatting inherited metabolic disorder." ScienceDaily. www.sciencedaily.com/releases/2014/08/140804123315.htm (accessed November 27, 2014).

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