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More mitochondrial dysfunction than expected?

November 30, 2010 45 comments

This Science post is by Staff blogger, Leanne Chukoskie, Ph.D.

Like most parents, the Jensens had little information about the factors that might help explain their son’s autism other than it was compounded by severe and frequent seizures.  When their son was tested, however, they learned that Levi’s cells harbored a mutation that affected the way his cells produced energy.  The Jensens now had valuable information to help treat their son.  For individuals with his particular type of mitochondrial dysfunction, certain seizure medications can cause serious side effects.

In a way, Levi Jensen was lucky. He lived near a large research center that specializes in mitochondrial disorders which is funded by Autism Speaks to investigate the role mitochondria play in autism spectrum disorders (ASD). The diagnosis of mitochondrial disorder or dysfunction is difficult. Multiple tests, often including an invasive muscle biopsy, are required.  How many other individuals with autism might benefit from a deeper understanding of how their cells use energy?

A new study released today in the Journal of the American Medical Association (JAMA) reveals that children with autism may have more trouble fueling the energy demands of their cells due to dysfunctional mitochondria. In this new Autism Speaks-funded study from UC Davis, blood samples from 10 children between the ages 2 and 5 years old and diagnosed with autism were compared with matched control samples from typically developing children.  The investigators found evidence of “breaks” in the cascade of enzymes that mitochondria use to create energy in 8 of 10 autism samples, but no control samples.  They found evidence of a mutation in a gene that supports mitochondrial function, also only in the autism samples. Lastly, in most of the autism samples, there were extra copies of mitochondria. The over-proliferation of mitochondria may also be a sign that individually the mitochondria are not working optimally, and are compensating for reduced function from each mitochondrion by producing more mitochondria overall.

Previous studies have shown that breaks in mitochondrial function can lead to a host of disorders, and the energy-demanding brain can be particularly affected. However, none of the previous autism studies has shown as high a proportion of impaired mitochondrial function as the current study.  Cecilia Giulivi, Ph.D., the lead researcher on the study and a professor of Molecular Biosciences in the School of Veterinary Medicine at UC Davis, was drawn to research abnormal energy metabolism in autism because several symptoms of ASD overlap with mitochondrial diseases.

“We wanted to test the hypothesis in a direct way: is there a mitochondrial dysfunction in material readily available from children with full autism syndrome?” says Giulivi. The research team chose to look at white blood cells—lymphocytes—because they are a type of cell that has significant quantities of mitochondria. Drawing blood is much less invasive than obtaining a muscle biopsy, but traditionally mitochondrial function has been difficult to assess in blood because there are relatively few mitochondria in blood, compared with other body tissues. In fact, red blood cells have no mitochondria at all.

While these results are an exciting new development for both this area of research and for families, it is important to remember that this is still the edge of science and not yet a clinically-useful set of tests. However, if replicated, these tests could make screening for mitochondrial dysfunction much more accessible.

Dr. Giulivi and colleagues are already taking the next steps to follow up this research.  They are studying the families of children with autism to try to understand the mechanism that causes the mitochondrial deficiency. The samples are part of a larger study (CHARGE; Childhood Autism Risks from Genetics and the Environment) in which the investigators are already measuring both genetic and environmental influences on autism risk.  Adding mitochondria to that mix will be especially helpful.  Dr. Giulivi was also quick to add a note of deep appreciation for all the families that participated in the study, saying “Without their participation, we couldn’t have done it!”

Indeed the enthusiasm for research participation often works both ways.  The seizure medication Levi had been taking—Depakote—seemed to make Levi very drowsy. At three years old, Levi was sleeping and napping for 16 hours of the day. His mitochondrial specialist switched medication right away due to concern of an underlying mitochondrial disorder for which Depakote produced severe side effects.

The Jensens are thrilled to report that Levi now has more energy than ever, has regained words that he lost prior to the medication change, and is generally functioning at a much higher level.  For Levi’s parents, Curtis and Alaina Jensen, learning about Levi’s mitochondrial disease helped them gain an understanding of metabolic functions and sparked creative ways to make special considerations for the remaining challenges Levi faced.  Alaina says, “We have found that exercise has been a big key for Levi to feel good and increase his energy and stamina.  It took a long time for him to build up the endurance to play, but it has been worth all the effort.  With a combination of the right seizure medication, supplements, exercise and diet, we now have a very happy boy.”

Click here to view the press release on this new report.

Autism in the News – Tuesday, 11.30.10

November 30, 2010 Leave a comment

Old racing horse is a winner with autistic boys (Los Angeles Times)
Spot the Diplomat had an undistinguished career on the track, but is a champion to the Hays family, which sees his remarkable influence on young brothers Jack and Dylan. Read more.

New research sheds light on early signs of autism, treatment (Houston, Texas)
Doctors and scientists say new research could be promising for families dealing with autism. The research centers around early intervention and how it could decrease the severity of the disorder. Read more.

Bill to mandate insurance coverage for autism has a chance in lame duck, says Lt. Gov.-elect Brian Calley (mlive.com)
Lt. Gov.-elect Brian Calley will make a last-minute push Tuesday to require insurers to cover autism treatments when he urges the Senate Republican caucus to put the legislation to a vote. Read more.

Fraser and Delta Dental of Minnesota Partner on iPhone App (Minneapolis, Minn.)
Fraser, a Minnesota nonprofit serving children and adults with special needs, and Delta Dental of Minnesota recently made available the My Healthy Smile app for iPhones and iPods. Read more.

Both Sides of the Table (Laguna Nigel Patch)
On a daily basis, I sit across the table from the parents of my students. Usually, I’m letting them know if their child meets the criteria of a handicapping condition, which would make them eligible for special-education services. This is only part of my role as a school psychologist. Read more.

Autism Talk TV – Episode 11

November 29, 2010 1 comment

This is a guest post by Alex Plank, an autistic adult who founded the online community Wrong Planet. Alex is a graduate of George Mason University.

If You Could Say it in Words is a great new film about an autistic protagonist Nelson and his experience with love. The film came out on DVD yesterday, November 23, 2010. In this episode of Autism Talk TV, I switch sides of the camera and get interviewed along with director Nicholas Gray and actors Alvin Keith and Marin Ireland about the project. Nicholas has graciously offered to allow approved nonprofits to screen the film for for benefits and community events.

I first learned about If You Could Say it in Words in October of 2006. I was contacted by the director, Nicholas Gray, who had found my interview of Heather Kuzmich from America’s Next Top Model.

After getting the chance to watch the film, I was very excited. I interviewed Nicholas, and actor Alvin Keith, at my home in Virginia. Shortly after the interview was published, I posted a review of the movie to Wrong Planet, in which I described the film as having “the most authentic portrayal of an autistic person that I’ve ever seen in the movies.” After I had posted these two articles to Wrong Planet, director Nicholas Gray and I became friends. Needless to say, I was very happy when he called me and told me that he had secured a distributor for the film.

Nicholas licensed my documentary ‘autism reality’ to include in the special features of the DVD for If You Could Say it in Words. In addition, he asked me to produce a documentary about the plight of the undiagnosed Aspie.

Nicholas has graciously offered to allow approved nonprofits to screen the film for community events. Some nonprofits have already taken advantage of this program. You can contactAdam Eisenstein if your organization is interested showing If You Could Say it in Words at one of your events. Contact aeisenstein@chipchair.com for more information.

Now, please enjoy episode 11 of Autism Talk TV!

Click here for more information about Autism Talk TV – Episode 11. Check out Alex’s work on Wrongplanet here.

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Autism in the News – Monday, 11.29.10

November 29, 2010 Leave a comment

Schools bear special education growth, costs (Bakersfield.com)
Mary and Monte Leighton knew after David was born there was something going on with him. A doctor soon confirmed — David showed signs of autism. For schooling, doctors recommended the infant development program at Richardson Center, and at 20 months, he started school there. Read more.

Autistic children helped by Liz’s new Engine Shed (UK)
A mobberly mum has set up a group that she hopes will allow autistic children to make friends while enjoying one of their favourite past times. Read more.

Think sensory presents for children with autism (Brownsville Herald)
A few days before Thanksgiving, Marshall was sitting at a work table in school. When the teacher walked into the room, she could see that the little boy had been crying. Read more.

A Song for Autism: Talented carer lines up all-star charity concert (UK)
For 10 years, talented singer-songwriter John Taylor has worked as a carer for people with autism. But now he leaving the job he loves so much to pursue a dream career in music after being signed to a top American label. Read more.

County prosecutor fights for insurance coverage for autistic daughter (Fort Worth, Texas)
Leticia Martinez knew early on that something was not right with her baby girl. Read more.

Autism Speaks Calls on the National Community to Join Michigan Lt. Governor-Elect Brian Calley to “No Longer Remain Silent” on Autism Insurance Reform

November 29, 2010 2 comments

Autism Speaks Calls on the National Community to Join Michigan Lt. Governor-Elect Brian Calley to “No Longer Remain Silent” on Autism Insurance Reform

Nation, families in Michigan need your help today to get autism insurance reform passed before the end of their session and to become the 24th state to pass this legislation.  After four years, Michigan stands poised to finally join nearly half of the country in passing autism insurance reform legislation. The House has already passed the bill, but the State Senate must take up this issue before the end of the legislative session this week.

We are asking the national autism community to come together in support of this effort on behalf of Michigan families by taking just five minutes to call Michigan State Senate Majority Leader Mike Bishop at (517) 373-2417. Urge him to please bring autism insurance reform to the floor for a vote before the end of the legislative session.

Michigan Lt. Governor-Elect Brian Calley and father of a daughter with autism has been an outspoken supporter of the autism insurance reform effort in the state. Watch his video and share it with friends across the country.  Together we can join Lt. Governor-Elect Calley in saying “We will no longer remain silent.”

For more information visit www.autismvotes.org/michigan.

 

AutismCares this Holiday Season

November 29, 2010 Leave a comment

In times of economic hardship, families with one or more children with autism are among those hit the hardest.  In addition to the high costs and stress associated with caring for a child with autism, a sudden job loss, accident, home foreclosure, or natural disaster makes an already stressful situation worse.  When social services, family and friends, and loans run out, where do these families turn?

AutismCares helps families affected by autism to cover costs associated with critical living expenses such as: housing, utilities, car repair, daycare, funeral expenses, and other essential items on a case-by-case basis. The program relies on donations to assist these families who are in need.

During the holiday season, hardship is felt even more for these families and we need your help to continue to be able to provide much needed assistance for the community!

Please click HERE to donate

Autism in the News – Wednesday, 11.24.10

November 24, 2010 2 comments

Poll rivals tick off on autism school (Australia)
Both
major parties have pledged their support for a new school in Knox for children with autism. Deputy Premier Rob Hulls said a re-elected Labor government would proceed with the second stage of the prep to year 12 school in Ferntree Gully. Read more.

Kan. senator honored for autism work (Topeka, Kan.)
A state senator from northeast Kansas has been honored by Easter Seals for his work on autism legislation. Read more.

They call him 50 Tyson (St. Paul, Minn.)
Antonio Henderson-Davis stood on the sideline during the Edison High School homecoming game, his punishment for missing football practice. Read more.

Blow to Ellesmere Port mum’s fight for justice for son (UK)
A mum has vowed to fight on to get compensation for her autistic son despite legal aid being withdrawn from a landmark court case. Terri McKay, of Summertrees Road, Ellesmere Port, claims a drug she took for epilepsy nine years ago has left her son Daniel with a catalogue of serious illnesses. Read more.

Autism coverage supporters push for Michigan law (Lansing, Mich.)
Supporters of expanded health care coverage for autism are pushing to get changes approved in Michigan by the end of the year. The Democratic-led Michigan House has voted to require offering better insurance coverage for behavioral therapies for autistic children. The Republican-led Senate hasn’t voted on the legislation. Read more.


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