Umetani Wins Bronze in the BeHEARD 2015 Science Challenge
Competition Brings Latest Technologies to Rare Disease Researchers
Michihisa Umetani, assistant professor of biology and biochemistry at the University of Houston’s Center for Nuclear Receptors and Cell Signaling, won a Bronze Prize in the BeHEARD (Helping Empower and Accelerate Research Discoveries) 2015 Science Challenge held by the Rare Genomics Institute.
The global competition offers rare disease researchers, who traditionally have difficulty attracting funding, grants of the latest life science innovations and technologies. This unique crowdsourced biotechnology competition allows many companies to gather together to make a difference for the rare disease community.
Umetani, who studies hereditary spastic paraplegia type 5A, will receive technical services valued at $5,000 from the Neuron-Genetics Institute.
“The prize provided by Neuron-Genetics Institute will help us further research into which loss of function results in hereditary spastic paraplegia type 5A, a human neurological disorder that results in lower extremity spasticity and weakness,” Umetani said.
This disease results from mutations that lose the enzyme function in a gene called CYP7B1, a metabolizing enzyme of a certain type of oxysterol, cholesterol metabolite, called 27-hydroxycholesterol (27HC).
“We have been working on the role of 27HC in human physiology and disease, and found that this oxysterol binds to estrogen receptor (ER) and alters ER function,” he said.
In the cardiovascular system, estrogen and its receptor have a protective role against vascular inflammation and cardiovascular diseases such as atherosclerosis, a hardening of blood vessels. However, 27HC augments the diseases. In addition, 27HC decreases bone mass and promotes breast tumor progression, all of which are mediated by its ER modulation.
Interestingly, while CYP7B1 mutation, which causes increased levels of 27HC, results in a neurological disorder in humans, the mice deficient in CYP7B1 do not develop motor neuron disease.
By comparing the difference in the phenotypes of CYP7B1 deficiency between humans and mice using the new technology provided by this prize, Umetani will try to identify the mechanism by which CYP7B1 substrates affect this neurological disorder.