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:2/17/2017)... Verdes, CA (PRWEB) , ... February 17, 2017 ... ... emotional flow is Dr. Carol Francis' goals for each and every ... Conference, Dr. Carol Francis will demonstrate five different brainwave tools which help energize ...
(Date:2/17/2017)... ... February 17, 2017 , ... Program will serve more ... and the U.S. Soccer Foundation announced today that they have awarded nine grants ... Success, the Foundation’s soccer mentoring program, teaches kids the fundamentals of soccer while ...
(Date:2/17/2017)... ... February 17, 2017 , ... Cancer ... Molecular Medicine Tri-Conference February 20 – 22 in San Francisco. As part of ... anatomic and molecular pathology workflow solution, as well as its new precision medicine ...
(Date:2/17/2017)... (PRWEB) , ... February 17, 2017 , ... ... and financial planning assistance to families and business owners in the greater Fort ... 4 Families organization. , For more than 30 years, LifeNet 4 Families ...
(Date:2/16/2017)... ... February 17, 2017 , ... The ... services to families and entrepreneurs in the Birmingham area, is announcing an ongoing ... needs assistance with her medically challenged son, Anius. , Anius is medically complex ...
Breaking Medicine News(10 mins):
(Date:2/16/2017)... CITY, Calif. , Feb. 16, 2017 /PRNewswire/ ... a specialty pharmaceutical company focused on the development ... of moderate-to-severe acute pain, announced that Vincent ... officer and a member of the company,s board ... Angotti brings over two decades of experience leading ...
(Date:2/16/2017)... 2017 Research and Markets has announced the ... & Trends - Function, Application, Cancer Type, Technology - Forecast to ... ... is poised to grow at a CAGR of around 28.6% over ... Some of the prominent trends that the market ...
(Date:2/16/2017)... -- WHAT: PerfectServe™ is hosting ... system IT professionals. From making sense of MACRA to optimizing ... participants to prepare for new policies and technologies.    ... WEBINAR TIME ... Webinar: Making Sense of MACRA   Click here ...
Breaking Medicine Technology: