Comparison of Growth Hormone Levels and Development in Twitcher Mice
Detwiler, Dawn M.
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Globoid Cell Leucodystrophy (GLD) is a progressively fatal genetic disease of humans, caused by a deficiency of the enzyme galactosy lceramide 𝛽- galactosidase. Because of this deficiency, galactocerebroside and psycho sine cannot be degraded and therefore remain in the brain. It is believed that psychosine causes destruction of oligodendriglia and subsequently demyelination. A murine model of GLD was discovered to be identical to the disease in humans. Both mice and humans with this disease have severely retarded growth and never completely develop. It was hypothesized that a lack of growth hormone (GH) IS responsible for the underdevelopment and that replacement therapy could increase the length of survival. The purpose of this study was to monitor the development of mice by measuring growth rates and to compare the growth rates with levels of GH found in serum from the mice. Observations of growth rate in affected mice showed that at nineteen days of age, physical signs of the disease appeared and development began to slow down. Blood from these mice was tested for GH by radioimmunoassay and compared to that from normal mice. No significant difference was found in GH level between the affected and the normal mice. This study was limited by the small sample size however, and is being continued with increased sample size for more conclusive results. Future research will also include testing for thyroid hormone (TH), somatomedins and receptors for each of these along with testing for growth hormone receptors.