A Story of Three Blind Mice: Characterization of Retinopathy of Hurler's Disease
2011-04-13
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A Story of Three Blind Mice: Characterization of Retinopathy of Hurler's Disease
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2011-04-13
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Abstract
Mucopolysaccharidosis is a class of lysosomal storage disorders where a genetic
mutation results in a deficiency of enzymes that would normally break down
glycosaminoglycans (GAGs) in cells. This disorder results in the accumulation of
GAGs in all virtually all cells leading to tissue and organ damage.
Mucopolysaccharidosis I-H or Hurler’s disease, a fatal genetic condition, is the
most extreme form due to a deficiency of the enzyme α-L-iduronidase. Although
life-expectancy is increased with treatment, vision loss are still present in a
number of patients. A better understanding of the abnormalities in the retina is
essential in choosing a treatment to prevent vision loss. A mouse model of MPS I,
or Hurler mouse, was studied for visual function, specific abnormalities in the
retina, and success of two different modalities of treatment in the prevention of
vision loss. First, the Hurler mice showed large variations in retinal morphology –
from normal in appearance to extremely abnormal. Abnormalities ranged from
severe, in which the optic nerve fails to exit the eye and ganglion cell loss, to
milder irregularities such as GAGs deposits and disorganization of the retinal
layers. An optomotor test, the ability to track black and white stripes on a rotating
drum, was used to assess overall visual function. Approximately 25% of Hurler
mice were unilaterally blind. Visual function was preserved in the intranasal
treatment group, while Hurler mice subjected to a hematopoietic stem cell
transplantation treatment experienced vision loss. These results suggest that an
intranasal treatment may have protective effects on vision in the treatment of
Mucopolysaccharidosis I-H or Hurler’s disease.
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Additional contributors: Linda McLoon (faculty mentor)
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Liu, Luna. (2011). A Story of Three Blind Mice: Characterization of Retinopathy of Hurler's Disease. Retrieved from the University Digital Conservancy, https://hdl.handle.net/11299/104320.
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