Originally published September 23 2005
New questions raised on brain and cardiovascular development by rare eye movement disorder
by Mike Adams, the Health Ranger, NaturalNews Editor
A rare eye movement disorder that involves a mutation of a gene called HOXA1 is currently being studied in mice by Children's Hospital Boston researchers, and, according to Science Daily, it has shed new light on the way scientists view brain and cardiovascular growth.
The syndrome involves a mutation to HOXA1, a gene that has been extensively studied in mice, but about which little is known in humans.
HOXA1 is the first HOX gene turned on in mice, and presumably in the human body, and is involved in patterning of the growth of the head, face, and brainstem.
Until this study, no human HOXA1 mutation had ever been identified, and it was assumed that complete loss of HOXA1 function would be lethal.
But the Children's investigators, led by graduate student Max Tischfield and neurologist Dr. Elizabeth Engle of the Children's Hospital Boston Program in Genomics and the Harvard Medical School Program in Neuroscience, have found living people with two mutated copies of HOXA1 -- from three different parts of the world.
"This is the first description of a human syndrome resulting from any of the HOX genes involved in brain development, and the first report of a total loss of any HOX gene in humans," says Engle, senior author of the study.
Tischfield and Engle had been studying genetic disorders that interfere with peoples' ability to move their eyes horizontally (left or right).
Collaborators in Saudi Arabia alerted them to patients they'd been seeing who had not only restricted horizontal eye movement, but also deafness and motor impairments.
Eight were profoundly deaf, 3 had external ear defects, 7 had delayed motor development, and 2 met criteria for autism spectrum disorder with cognitive and behavioral impairment.
In addition, 7 had malformations or complete absence of one or both internal carotid arteries, one of the two carotid arteries that are the main suppliers of blood to the brain.
Fortuitously, Engle and Tischfield also recalled a paper reporting a syndrome in 10 Native American children in Arizona that had many similarities to BSAS.
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