Navigation Links
Genetic Eye Disorder Can Have Other Implications

Rare eye disorder from genetic sources can also be responsible for other effects in the brain and fetal cardiovascular development.

Researchers at Children’s Hospital Boston, who specialize in studying the genetics // of rare eye-movement disorders, have found a rare genetic syndrome whose implications go far beyond the eye, raising intriguing questions about human cardiovascular and brain development.

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 belongs to a large family of HOX genes that govern very early embryonic development and the making of the body plan. 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.

Mice that lack both copies of HOXA1 universally die. 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, have found living people with two mutated copies of HOXA1 -- from three different parts of the world.

Researchers 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. The Saudi clinicians began to carefully reexamine their patients, while US researchers looked at the patients’ DNA to try to identify a causative gene.

All 9 patients with the syndrome (dubbed Bosley-Salih-Alorainy syndrome, or BSAS, after the Saudi discoverers) had horizontal gaze abnormalities. 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.

Source: Newswie
'"/>




Related medicine news :

1. Genetic Dentistry: Your Dentist may be able to grow you a new set of Teeth.
2. Genetic influence in menopause
3. Genetics and cholesterol levels
4. Genetics helps in attacking cancer
5. Genetic disorder related with sleep patterns
6. Genetic innovation
7. Genetic tests for cancer
8. Genetic indicates memory
9. Genetic mutation to the fountain of youth discovered
10. Genetic differences found between Male and Female brains
11. Alcoholism Influenced By Both Genetics & Family Environment
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:5/26/2017)... Texas (PRWEB) , ... May 26, 2017 , ... Yisrayl ... a new publication this week that is focusing on the Peace Agreements being discussed ... his Middle East sprint in a race to try to speed up peace talks ...
(Date:5/26/2017)... ... May 26, 2017 , ... Dr. Alex Rabinovich, a highly-skilled oral surgeon ... informational blog post on insurance options. If a Bay Area patient has to search ... time and money. Visiting an in-network provider for a second opinion can ensure a ...
(Date:5/26/2017)... ... May 26, 2017 , ... Centennial-based ... of proceeds from its 14th Annual Clays for Kids fundraiser, to be held ... Bennett, Colorado. , As part of BluSky’s partnership with The Adoption Exchange, ...
(Date:5/26/2017)... ... May 26, 2017 , ... Water damage to the ... Jersey School District had left education officials with a number of critical issues to ... the flooring had to be accomplished with little or no disruption to class schedules. ...
(Date:5/24/2017)... ... May 24, 2017 , ... Dr. Alan I. Benvenisty, MD is ... York City. He is known for his distinguished expertise and experience in the diagnosis ... holds sub-specialty training in treating renovascular disease and aortic aneurysm . He is ...
Breaking Medicine News(10 mins):
(Date:5/4/2017)... May 4, 2017 Clarius Mobile Health, ... handheld ultrasound scanners this week at the American ... (ACOG) in San Diego, CA ... "Clarius is the perfect tool for clinicians to ... rate, and evaluate pregnancy-related complications like ectopic pregnancy ...
(Date:5/4/2017)... , May 4, 2017   BioLife Solutions , ... manufacturer and marketer of proprietary clinical grade hypothermic ... or the "Company"), today announced that the Company,s first ... close on Thursday, May 11, 2017, and that the ... at 1:30 p.m. PT that afternoon. Management will provide ...
(Date:5/3/2017)... 2017  West Pharmaceutical Services, Inc. (NYSE: WST), ... drug administration, announced today that Fran DeGrazio ... and Diane Paskiet , Director, Scientific Affairs, ... on West,s expertise in the areas of safety ... providing commentary on updated industry guidance. ...
Breaking Medicine Technology: