Autism spectrum disorder in mice successfully treated
Washington: Using a mouse model, researchers have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.
The research team, from the University of Cincinnati (UC) and Cincinnati Children’s Hospital Medical Center, was led by Joe Clark, PhD, a professor of neurology at UC.
The disorder, creatine transporter deficiency (CTD) is caused by a mutation in the creatine transporter protein that results in deficient energy metabolism in the brain. Linked to the X chromosome, CTD affects boys most severely; women are carriers and pass it on to their sons.
The brains of boys with CTD do not function normally, resulting in severe speech deficits, developmental delay, seizures and profound mental retardation. CTD is estimated to currently affect about 50,000 boys in the United States and is the second-most common cause of X-linked mental retardation after Fragile X syndrome.
Following CTD’s discovery at UC in 2000, researchers at UC and Cincinnati Children’s led by Clark discovered a method to treat it with cyclocreatine—also known as CincY, and pronounced cinci-why—a creatine analogue originally developed as an adjunct to cancer treatment. They then treated genetically engineered mice as an animal model of the human disease.
“CincY successfully entered the brain and reversed the mental retardation-like symptoms in the mice, with benefits seen in nine weeks of treatment,” said Clark, adding that no harmful effects to the mice were observed in the study.
“Treated mice exhibited a profound improvement in cognitive abilities, including recognition of novel objects, spatial learning and memory,” Clark said.
As a repurposed drug (originally developed for another therapy), CincY has already been through part of the U.S. Food and Drug Administration (FDA) approval process. It is taken orally as a pill or powder.
UC’s Office of Entrepreneurial Affairs and Technology Commercialization has reached agreement with Lumos Pharma, a privately held Austin, Texas, startup company based on UC technology, to develop and commercialize CincY.
Lumos Pharma was created with technology licensed from UC’s Office of Entrepreneurial Affairs and Technology Commercialization. Its CEO is Rick Hawkins, a 30-year biotech industry veteran. Jon Saxe is its chairman.
“It has taken many years to get here and I am happy that our efforts have led to this translational effort to make a therapy available to those afflicted with CTD,” Clark said.
“We look forward with commitment and hope to the day when those patients will benefit from our work,” Clark said.
The collaboration gained momentum when Lumos Pharma submitted a proposal based on Clark’s technology to the National Institutes of Health and was selected as a drug development project partner by the National Center for Advancing Translational Sciences’ Therapeutics for Rare and Neglected Diseases (TRND) program.
Under TRND’s collaborative operational model, project partners form joint project teams with TRND and receive in-kind support from TRND drug development scientists, laboratory and contract resources.
The findings have been published online, in the Journal of Clinical Investigation, a publication of the American Society for Clinical Investigation.
More from India
More from World
More from Sports
More from Entertaiment
- Reservation issue: Police register case against Bainsla, 20 others
- Zee Media exclusive chat with 'Welcome to Karachi' cast
- Zee Media exclusive interview with Haryana CM Manohar Lal Khattar
- UP Minister allegedly threatens, abuses Gonda businessman
- Manali: Heavy corruption found in environmental taxes
- Aapke Sitare: Astro prediction for May 24, 2015
- Watch: Fast N Facts @ 7:30pm
- Five unmanned parachutes spotted over Mumbai airport
- UP: Jammu-bound Muri Express derails in Kaushambi
- One year of Modi govt: How satisfied is the common man?
- Jaipur girl Mini Rajpal wins Miss India Deaf 2015!
- Mumbai architecture creates double decker bus from scrap!
- One year of Modi govt: How satisfied is the common man? Part-2
- Dawood's intercepted phone calls prove yet again he is in Pakistan
- CBSE Board Class 12th Exam Results 2015 declared
- IPL 2015 Final: MI vs CSK - As it happened...
- CBSE.nic.in 12th XII Results 2015: CBSE Board (cbseresults.nic.in) Class 12th XII Exam Results 2015 to be announced on May 25
- Heatwave continues in North India; death toll in Andhra Pradesh, Telangana more than 400
- IPL 2015 final: Mumbai Indians thrash Chennai Super Kings by 41 runs to lift second title
- LIVE - Cbse.nic.in & cbseresults.nic.in Class 12th XII Results 2015: CBSE Board Class 12th XII Exam Results 2015 to be announced shortly
- Check cbseresults.nic.in for CBSE Class 12 result 2015
- Kejriwal completes 100 days in office, AAP says centre 'shadow boxing' over row with LG
- Heatwave claims over 550 lives so far, Delhi saw hottest day
- Online filing of applications for UPSC civil services exam begins
- Not just today, Muslims feeling alienated since 1947: Najma Heptulla
- Cbse.nic.in & cbseresults.nic.in Class 12th XII Results 2015: CBSE Board Class 12th XII Exam Results 2015 declared
- Mathura rally: PM Modi slams 'corrupt' UPA regime, lauds NDA govt's efforts in past one year
- CBSE Class 12 results out: Here's how you can check
- Pakistan criticizes Defence Minister Parrikar's terrorism remarks
- Two dead, over 100 injured as Muri Express derails in UP; Prabhu announces Rs 2 lakhs ex-gratia for kin of dead