Navigation Links
Link to autism in boys found in missing DNA
Date:9/15/2010

September 16, 2010 (Toronto) New research from the Centre for Addiction and Mental Health (CAMH) and The Hospital for Sick Children (SickKids), both in Toronto, Canada provides further clues as to why Autism Spectrum Disorder (ASD) affects four times more males than females. The scientists discovered that males who carry specific alterations of DNA on the sole X-chromosome they carry are at high risk of developing ASD. The research is published in the September 15 issue of Science Translational Medicine.

ASD is a neurological disorder that affects brain functioning, resulting in challenges with communication and social interaction, unusual patterns of behaviour, and often, intellectual deficits. ASD affects one in every 120 children and a startling one in 70 boys. Though all of the causes of ASD are not yet known, research has increasingly pointed towards genetic factors,. In recent years, several genes involved in ASD have successfully been identified.

The research team was led by Dr. John B. Vincent, Senior Scientist and head of CAMH's Molecular Neuropsychiatry and Development Laboratory and Dr. Stephen Scherer, Senior Scientist and Director of The Centre for Applied Genomics at SickKids, and Director of the McLaughlin Centre at the University of Toronto. The scientists analyzed the gene sequences of 2,000 individuals with ASD, along with others with an intellectual disability, and compared the results to thousands of population controls. They found that about one per cent of boys with ASD had mutations in the PTCHD1 gene on the X-chromosome. Similar mutations were not found in thousands of male controls. Also, sisters carrying the same mutation are seemingly unaffected.

"We believe that the PTCHD1 gene has a role in a neurobiological pathway that delivers information to cells during brain development this specific mutation may disrupt crucial developmental processes, contributing to the onset of autism." said Dr. Vincent. "Our discovery will facilitate early detection, which will, in turn, increase the likelihood of successful interventions."

"The male gender bias in autism has intrigued us for years and now we have an indicator that starts to explain why this may be," says Dr. Scherer. "Boys are boys because they inherit one X-chromosome from their mother and one Y-chromosome from their father. If a boy's X-chromosome is missing the PTCHD1 gene or other nearby DNA sequences, they will be at high risk of developing ASD or intellectual disability. Girls are different in that, even if they are missing one PTCHD1 gene, by nature they always carry a second X-chromosome, shielding them from ASD." Scherer adds, "While these women are protected, autism could appear in future generations of boys in their families."

Researchers hope further investigation into the PTCHD1 gene will also indicate potential avenues for new therapy.


'/>"/>

Contact: Michael Torres
media@camh.net
416-595-6015
Centre for Addiction and Mental Health
Source:Eurekalert

Related biology news :

1. USF receives NIH grant to study implications of maternal infection as cause of autism
2. University of Nevada professor studies structural basis for autism disorders
3. Researchers connect APC protein to autism and mental retardation
4. Autism Speaks on US Senate hearing on potential environmental health factors in autism
5. York U autism-related study discovers how drug interferes with neuronal cell function
6. Autism in a test tube?
7. Autism genome project identifies genetic variants that may make people susceptible to disorder
8. Newly discovered gene variants lead to autism and mental retardation
9. Popular autism diet does not demonstrate behavioral improvement
10. Treatment plan for children with autism often includes complementary therapies
11. Study adds to evidence that autism has genetic basis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/16/2016)... , Dec. 16, 2016 The global wearable medical ... 12.14 billion by 2021 from USD 5.31 billion in 2016, at ... ... mainly driven by technological advancements in medical devices, launch of a ... preference for wireless connectivity among healthcare providers, and increasing focus on ...
(Date:12/15/2016)... Mich. , Dec. 15, 2016  There is ... car doors or starting the engine. Continental will demonstrate ... Las Vegas . Through the combination ... Start and Entry) and biometric elements, the international technology ... of vehicle personalization and authentication. "The integration ...
(Date:12/7/2016)... PUNE, India , December 7, 2016 According to ... NLP, Machine Learning), Software Tool (Facial Expression, Voice Recognition), Service, Application Area, End ... size is estimated to grow from USD 6.72 Billion in 2016 to USD ... Continue Reading ... ...
Breaking Biology News(10 mins):
(Date:1/18/2017)... 2017 Applied BioMath ( www.appliedbiomath.com ), ... research and development, today announced that Dr. ... of Applied BioMath, will present at the next ... Meeting on Thursday January 19, 2017 at the ... MA.   Dr. Burke,s talk "Quantitative Modeling and Simulation ...
(Date:1/18/2017)... ... January 18, 2017 , ... ... Ops Executives 2017 in its continued commitment to the advancement of the clinical ... discuss current issues related to clinical trial planning and management. , As ...
(Date:1/18/2017)... ... 2017 , ... Whitehouse Labs has furthered its efforts towards ... (AMRI), the scientific staff dedicated to Extractables / Leachables & Impurities has more ... 2017. Extractable & Leachable evaluations have become increasingly more vital to successful product ...
(Date:1/18/2017)... ... 18, 2017 , ... MYOLYN, which creates medical technology for ... 510(k) to the FDA, requesting clearance of the MyoCycle Home and the MyoCycle ... , The submission marks a major milestone for the technology startup. MYOLYN ...
Breaking Biology Technology: