Navigation Links
Mutations in 2 Genes Linked to Rare Autism-Related Disorder
Date:1/26/2012

THURSDAY, Jan. 26 (HealthDay News) -- Newly discovered mutations in two adjacent genes cause a rare genetic brain condition called Joubert syndrome, according to a new study.

People with Joubert syndrome have malformation or underdevelopment of the cerebellum and brainstem, resulting in a range of physical and mental disabilities such as poor muscle control and mental retardation.

As many as four in 10 people with Joubert syndrome meet the criteria for an autism diagnosis and other neurocognitive disorders, according to background information in a news release about the research.

In the study, a team led by University of California, San Diego School of Medicine researchers found that mutations in two adjacent genes -- TMEM216 and TMEM138 -- cause Joubert syndrome.

"It is extraordinarily rare for two adjacent genes to cause the same human disease," team leader Dr. Joseph Gleeson, a professor of neurosciences and pediatrics, said in the university news release. "The mystery that emerged from this was whether these two adjacent, non-duplicated genes causing indistinguishable disease have functional connections at the gene or protein level."

The researchers conducted evolutionary analysis and concluded that the two genes became joined end-to-end about 260 million years ago. The connected genes then evolved simultaneously and became regulated by the same transcription factors, the authors reported in the study published online Jan. 26 in Science Express.

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about Joubert syndrome.

-- Robert Preidt

SOURCE: University of California, San Diego, news release, Jan. 26, 2012


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved  

Page: 1

Related medicine news :

1. Gene Mutations May Boost Ovarian Cancer Survival: Study
2. Gene Mutations Linked to Thyroid Cancer Risk: Study
3. Massive DNA search uncovers new mutations driving blood cancer
4. Panel of melanoma mutations opens door to new treatment possibilities
5. Linking of mutations in 12 genes to ovarian cancer may lead to more effective prevention
6. Newly Found Gene Mutations May Aid Heart Treatments
7. Women With BRCA Mutations Get Cancer Diagnosis Earlier Than Before
8. Women who inherit BRCA gene mutations develop cancer earlier than their ancestors
9. Gene Mutations Identified in Uterine Fibroids
10. ADHD, Autism May Sometimes Share Gene Mutations
11. Elusive gene mutations found for malignant brain tumor
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Mutations in 2 Genes Linked to Rare Autism-Related Disorder
(Date:6/26/2016)... ... 2016 , ... Brent Kasmer, a legally blind and certified personal trainer is helping to develop ... The fitness app plans to fix the two major problems leading the fitness industry today:, ... all type program , They don’t eliminate all the reasons people quit their ...
(Date:6/25/2016)... Viejo, California (PRWEB) , ... June 25, 2016 , ... ... to fit their specific project," said Christina Austin - CEO of Pixel Film Studios. ... fully customizable and all within Final Cut Pro X . Simply select a ...
(Date:6/25/2016)... ... June 25, 2016 , ... Conventional wisdom preaches the benefits ... terms of the latter, setting the bar too high can result in disappointment, perhaps ... slow progress toward their goal. , Research from PsychTests.com reveals that ...
(Date:6/24/2016)... ... 24, 2016 , ... The Pulmonary Hypertension Association (PHA) learned ... receive two significant new grants to support its work to advance research and ... by recognizing patients, medical professionals and scientists for their work in fighting pulmonary ...
(Date:6/24/2016)... ... June 24, 2016 , ... People across the U.S. are sharpening ... Talker Award, an essay contest in which patients and their families pay tribute to ... at the 2016 National Society of Genetic Counselors (NSGC) Annual Education Conference (AEC) this ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... Roche (SIX: RO, ROG; OTCQX: RHHBY) announced that it ... (procalcitonin) assay as a dedicated testing solution for people ... Roche is the first IVD company in the U.S ... assessment and management. PCT is a sepsis-specific ... blood can aid clinicians in assessing the risk of ...
(Date:6/23/2016)... 23, 2016 Capricor Therapeutics, ... a biotechnology company focused on the discovery, development ... patient enrollment in its ongoing randomized HOPE-Duchenne clinical ... 50% of its 24-patient target. Capricor expects the ... quarter of 2016, and to report top line ...
(Date:6/23/2016)... , June 23, 2016 Bracket , ... launch its next generation clinical outcomes platform, Bracket eCOA (SM) ... held on June 26 – 30, 2016 in ... first electronic Clinical Outcome Assessment product of its kind to ... #715. Bracket eCOA 6.0 is a flexible platform ...
Breaking Medicine Technology: