New Autism Genes Discovered

JournaL of Business ^ | 6/10/2010 | Business Wire

[Military family member]

PALO ALTO, Calif.--(BUSINESS WIRE)--An international consortium of researchers working under the auspices of Autism Speaks, the world’s largest autism science and advocacy organization, has announced new genetic discoveries from the second phase of its collaborative study: the Autism Genome Project. The results were published June 10, 2010, in the journal Nature, one of the world’s most respected peer-reviewed scientific publications.

The Autism Genome Project (AGP) (www.autismgenome.org) consists of 120 scientists from more than 60 institutions representing 11 countries. Included in the consortium were scientists from Lucile Packard Children’s Hospital and Stanford University. Joachim Hallmayer, M.D., associate professor of Psychiatry, and a member of the Stanford Autism Center at Packard Children’s Hospital, noted the importance of the findings.

[Travis McGee]

ping

[Red Badger]

Dear God, I hope they can find a cure for this insidious disease!...............

[Sacajaweau]

Sometimes think that SOME of this autism is the new ADHD

[ilovesarah2012]

Does anyone know when autism was “discovered”?

[James C. Bennett]

Doctors find way to reverse autism's effects

The Times of India

June 8, 2010

MUMBAI: New research by a team of Bangalore-based scientists has given hope to those with emotional problems caused by the inheritance of a fragile X chromosome. The researchers, for the first time in the world, mapped defective connections between nerve cells in the emotional hub of the brain of mice who had Fragile X Syndrome. The research has just been published in the online edition of the US-based Proceedings of the National Academy of Sciences.

In humans, while a fragile X chromosome may be passed from one generation to the next with no debilitating effects, the syndrome does affect one in 4,000 men and one in 6,000 women. Upto 20% of boys with autism have the condition due to Fragile X.

The syndrome is the most common inherited cause of intellectual impairment and most common genetic cause of autism. Poor emotional response, hyperactivity, LD and attention deficit are other conditions Fragile X can cause.

The research, by a team from the National Centre for Biological Sciences (NCBS), shows that medication and therapy could reverse the effects of Fragile X. The NCBS team has shown that even the long-term ravages of the condition could be reversed with medication in mice.

Dr Sumantra Chattarji, who heads the NCBS team of neuro-scientists, said the researchers mapped the cellular basis of emotional problems associated with Fragile X, which is a genetic mutation in the X chromosome. "We have identified novel synaptic defects in the amygdala-the emotional hub of the brain," Chattarji said. Synaptic connections are those between two nerve cells.

The team found cellular signalling deficient in cells in the amygdala. Incidentally, this is the second important finding by the NCBS team on Fragile X. In 2007, the same scientists identified a specific enzyme that caused Fragile X. It established that inhibiting the enzyme, called P21-Activated Kinase (PAK), reversed the debilitating symptoms of Fragile X in mice.

This time around, the NCBS scientists, along with their collaborators at New York University, studied the synapses in the amygdala. "Using electro-physiological recordings from cells in the amygdala, my student Aparna Suvrathan identified synaptic defects on both sides of the synapses. Not only is there a shortage of glutamate being released, the receptors available to bind glutamate are also below normal levels," said Chattarji.

 

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Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.

• Hyperactive behavior
• Large body size
• Large forehead or ears with a prominent jaw
• Large testicles (macro-orchidism) after the beginning of puberty
• Mental retardation
• Tendency to avoid eye contact

Family members who have fewer repeats in the FMR1 gene may not have mental retardation, but may have other problems. Women with less severe changes may have premature menopause or difficulty becoming pregnant. Both men and women may have problems with tremors and poor coordination.

There is no specific treatment for Fragile X syndrome. Instead, training and education help affected children function at as high a level as possible. Because the condition is not rare, educational approaches have been developed and tested.

Fragile X syndrome is caused by a change in the FMR1 gene. A small section of the gene code (three letters only -- CGG) is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem.

Normally, the FMR1 gene makes a protein needed for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all.

Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. You can have Fragile X syndrome even if your parents do not have it.

The person will have a family history of Fragile X syndrome (especially a male relative).

There are very few outward signs of Fragile X syndrome in babies. Some signs may include:

• Large head circumference in babies
• Mental retardation
• Oversized testes in males who have reached puberty
• Subtle differences in facial characteristics

In females, excess shyness may be the only sign of the problem.

A genetic test called polymerase chain reaction (PCR) is used to diagnose this disease. This test looks for a mutation (called a triplet repeat) in the FMR1 gene.

In the past, a specific type of chromosome analysis was done. Such testing may still be available.

The outcome depends on the extent of mental retardation.

Genetic counseling may help both existing and prospective parents with a family history of Fragile X syndrome, or a family history of other symptoms such as tremor. Genetic testing can help determine the level of risk in these families.

Accurate diagnosis is important, because other family members can inherit Fragile X syndrome or other problems related to an increased number of repeats in FMR1.

Complications vary depending on the type and severity of symptoms.

Call your health care provider if you suspect Fragile X syndrome in a child with mental retardation. Genetic counseling is recommended to help families understand the condition, and to understand the complex nature of DNA testing in Fragile X.

 

[momtothree]

There are so many children with this disorder today. Plus, there is the “autism umbrella” in which other disorders like Aspergers etc... are placed under. I may not have been that aware as a kid but I don’t remember this disorder being around or at least not so many children affected by it. Perhaps they were just labelled as “retarded of unknown origin” or something. I hope they can reverse or stop this thing. If not, these children will become society’s issue as they mature and their parents die. I have a friend with two children who have Aspergers Syndrome and it is such a struggle for her each and every day.

[Right Wing Assault]

In 1938 it was named by Hans Asberger.

I’m sure it was around for thousands of years. If a kid had it, the folks in your town said “he wasn’t right” or “he is backward” or “he isn’t all there.” Not retarded (sometimes very bright) but something isn’t right. The worst cases of autism make the kid appear to be retarded since they don’t speak or interact with other people much.

I knew a kid with mild Asberger syndrome. Very strange kid in some ways, perfectly normal in others.

[SmartEnough]

Fragile X and Autism are not the same thing. Many Autistics are any thing but mentally retarded. Some are geniuses.

[Hayzo]

“I hope they can reverse or stop this thing. If not, these children will become society’s issue as they mature and their parents die. I have a friend with two children who have Aspergers Syndrome and it is such a struggle for her each and every day.”

My thoughts exactly. I have a 10 year old son that is diagnosed with autism. He is an extremely bright kid and a great personality (more attention and outward expression of emotion than a typical autistic kid). But he still can’t even recognize when he needs to go to the bathroom to do number two.

We are planning for his succession into adulthood, but it is to ever see him living his life unassisted.

[Titus Quinctius Cincinnatus]

You mean it’s not caused by vaccines??????

The horror!!!!!

[dmz]

You mean it’s not caused by vaccines??????

The horror!!!!!

<><><><>

I’m sure Jenny McCarthy will find a new cause :-)

[<1/1,000,000th%]

LOL!

[puppypusher]

When your a parent with this mental health issue you’ll grab for anything in order to understand how a perfectly normal child can become so incapacitated to the point that he needs care 24 hours a day.It’s very damaging to the stability of the parents.They think “What the hell happened?We did everything right and look what happend to
my child.It’s very painfull knowing that the dreams you had for your child are gone.

I know because I’m a parent of a wonderful son who has Aspergers syndrome,A higher functioning version of autisum.

I saw a perfectly normal boy grow up and then in the fifth grade I noticed he was awkward,not sports minded and he didn’t really like being around people other then his immediate family.My wife and I just attributed it to growing up.

My son graduated from high school,He is a very bright kid,who is a whiz with computers and other intellectual persuits.His problem is he’s afraid to leave what’s familiar to him and that means home.

We sent him off to college and he was like a fish out of water,very itimidated by other students and the entire college scene.

We had him evaluated by a psycologist and the psycologist told us he had Aspergers.He had that diagnosis backed up by a psychiatrist.

When I heard that it was the most painfull thing I have experienced so far.Like a death in the family.

My son is now getting a lot of special life skills assistance and if he had to live on his own he could do it since he likes cooking.Now if I can only get him on a path towards a career.That’s going to be a struggle.

So folks out there in the world who don’t have a child with Autisum it’s. A real problem and it hurts like hell.Be thankfull that your child doesn’t have it.Also please try to understand those that are affected by it.