Genetic defect might make one accident proneFebruary 22nd, 2008 - 10:12 am ICT by admin
New York, Feb 22 (IANS) A genetic defect that causes a severe immune deficiency may make one prone to accidents like falling, a new study has found. Researchers at the Universities of Iowa and East Carolina found that mutation in a strain of lab mice inhibits production a protein called p22phox. This spurs a form of chronic granulomatous disease (CGD), a severe immune deficiency in humans.
The researchers found that mice without p22phox develop an immune deficiency mimicking human CGD.
They also discovered that the gene defect produces a severe disorder in mice, caused by loss of gravity-sensing crystals in the inner ear.
“The implication is that humans with CGD may also have gravitational disorders,” said Botond Banfi, co-author of the study.
P22phox is emerging as a critical subunit of a family of enzymes that produce reactive oxygen species (ROS).
For many years, ROS were simply thought of as destructive molecules that can kill infecting bacteria but also damage human cells.
More recently, however, ROS have been shown to play an important role in many normal cell processes, including development and blood pressure regulation.
“Loss of p22phox affects two enzyme complexes: one in phagocytes that is responsible for the immune defect and one in the inner ear.
“Since this is the first mouse model for defects in the p22phox subunit, this is the first time that its role in balance has been revealed,” Banfi said.
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Tags: blood pressure regulation, cell processes, cgd, chronic granulomatous disease, co author, crystals, east carolina, enzymes, gene defect, genetic defect, human cells, immune deficiency, implication, inner ear, lab mice, mouse model, mutation, oxygen species, phagocytes, spurs