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News- Page 21
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Research : TWO GENES IDENTIFIED AS ASSOCIATED WITH AUTISM
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Posted by Sylvia on Wednesday, November 12, 2003 (16:07:16)
Nature Genetics 31/03/2003
Two genes associated with autism, in two families where several members are affected, were revealed by French and Swedish researchers at the Institut Pasteur, INSERM, psychiatric departments in Paris (Créteil University Hospital and the Robert Debré public hospital) and the psychiatric department of the University of Göteborg.
This is the first time that genetic mutations have been precisely identified in individuals with autism. These results are published as a preview on the web site belonging to the magazine Nature Genetics.
For several years now, a considerable amount of research has been carried on the genetics of autism. A large number of parts in the genome were suspected and possible genes were incriminated, without any of them being unquestionably associated with the autistic syndrome.
It is now an established fact thanks to a study conducted by Thomas Bourgeron's team at the Institut Pasteur (Inserm 21 team "functional genomics and development", University of Paris VII) in collaboration with Marion Leboyer (Inserm 513 Unit "neurobiology and psychiatry ", University of Paris XII, Créteil University hospital) and Christopher Gillberg from the Göteborg University hospital in Sweden.
In two different families, they identified mutations altering two genes on the X chromosome and which seem to be implicated in the formation of synapses (communication spaces between neurons).
A genetic mutation on the NLGN4 gene was revealed in a family where two boys were affected, one with autism and the other with Asperger Syndrome (AS)¹. The mutation prevents a complete protein from forming.
In another family, which also has two brothers affected, one with autism and the other with AS, a mutation of the NGLN3 gene, also inherited from the mother, has been identified.
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Research : GENETIC MUTATION FOUND CAUSING OBSESSIVE-COMPULSIVE DISORDER
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Posted by sylvia on Wednesday, October 29, 2003 (13:24:37)
Reuters 23/10/2003
Researchers in the United States and Japan announced on October 23 that they had found a genetic mutation which causes obsessive-compulsive disorder and other mental illnesses, and said that some patients had a second mutation that made their conditions worse.
The rare finding could make it easier to discover effective treatments for the disorder, one of the 10 leading causes of disability worldwide.
Dr Norio Ozaki of Fujita Health University School of Medicine in Toyoake, Japan and colleagues at several US institutions - including the University of Pittsburgh and Yale University - worked on the study, whose findings were published in the journal, Molecular Psychiatry.
The gene is called the human serotonin transporter gene, hSERT, and helps to control how the body uses serotonin, a message-carrying chemical or neurotransmitter linked with mood.
Some anxiety drugs and antidepressants target serotonin, but the researchers said that patients with the mutations were not helped by these drugs.
"In all of molecular medicine, there are few known instances where two variants within one gene have been found to alter the expression and regulation of the gene in a way that appears associated with symptoms of a disorder," said Dr Dennis Murphy, of the National Institute of Mental Health, who worked on the study.
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Research : BASIC FUNCTIONS MAY 'CROWD OUT LANGUAGE' IN SOME PEOPLE WITH AUTISM
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Posted by sylvia on Friday, October 24, 2003 (15:46:41)
San Diego State University, 21/10/2003
A San Diego State University researcher's discoveries published in this month's American Journal of Psychiatry offer a more comprehensive model for the development of autism. These findings could provide a wealth of benefits, including a better understanding of the development of the disorder, and may eventually contribute to the development of future treatments.
Dr Ralph-Axel Mueller, an SDSU psychology professor, found that when people with autism make simple finger movements, activity in the brain is more widely distributed than it is in healthy subjects. Dr Mueller's discoveries suggest that, for people with autism, early-developing functions, such as simple movements, use up more brain resources and "crowd out" later-developing skills, such as language abilities and other executive functions.
These discoveries suggest that autism is likely to be based on elementary abnormalities that occur early in a child's development.
"Autism is a very large and complex puzzle," Dr Mueller said. "These findings could help us to understand the disorder better and to provide a clearer picture of how it develops."
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Research : ALZHEIMER'S DRUG COULD HELP AUTISTIC CHILDREN
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Posted by sylvia on Wednesday, October 22, 2003 (17:16:35)
Journal of Neurological Psychiatry, Moscow; Medline; Adam Feinstein, 22/10/2003
The nootropic drug, cerebrolysin - which some researchers have shown to have a beneficial effect in treating Alzheimer's disease - may also help children with autism, according to a new russian study.
Nineteen children with autism and eight with Asperger's syndrome, aged two to eight years, were treated with cerebrolysin in an inpatient clinic. All the patients received 10 daily microinjections (intramuscularly and perinervously) of 0.1 ml for five days.
The research team, led by Dr M.G. Krasnoperova, found the therapy resulted in improvement of cognitive functions (expressive and receptive speech, fine motor and play skills.
Positive effects were revealed in all the patients with Asperger's syndrome and in 89 per cent of the patients with autism, the researchers reported.
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Research : NEW CHILD-BY-CHILD STUDY FINDS NO LINK BETWEEN THIMEROSAL AND AUTISM
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Posted by sylvia on Wednesday, October 22, 2003 (16:30:57)
Statens Serum Institute, Copenhagen, Denmark; James Farrell, attorney, R. G. Taylor Associates, Houston; Journal of the American Medical Association, 01/10/2003
A child-by-child study has found no relationship between thimerosal - a mercury-based preservative that until recently was commonly added to vaccines - and childhood developmental problems such as autism. But that report will not stop a flood of lawsuits claiming just such a relationship, a lawyer says.
The Danish study, reported in the October 1 issue of the Journal of the American Medical Association, supports the findings of other medical analyses, most notable one issued last year by a panel appointed by the Institute of Medicine in the United States, which found no increased incidence of problems in children who got thimerosal-containing vaccines.
But that panel recommended that thimerosal be removed from vaccines, saying it was "biologically plausible" that cumulative exposure to the chemical might make children vulnerable to mercury-related disorders. Vaccine-makers began adding thimerosal to their products in the 1930s to kill potentially dangerous germs.
It contains ethylmercury, a cousin of methylmercury, the compound that has diners worried about eating too much fish. High doses of both compounds are known to damage brain cells, but whether low doses are hazardous is unclear. Manufacturers had already started to remove thimerosal from vaccines in 1999, because of a recommendation made by the US Public Health Service and other medical groups.
All childhood vaccines in the US, and many in other countries, are now available in thimerosal-free formulations. So Danish researchers at the Statens Serum Institute in Copenhagen were able to compare the incidence of childhood problems - including autism, attention deficit/hyperactivity disorder and developmental delays - in children who were vaccinated with a thimerosal-containing pertussis (whooping cough) vaccine and those who got an additive-free vaccine.
"This is a study that overcomes the problem previous studies have had," says the study author, Dr Mads Melbye, a professor of epidemiology at the Statens Serum Institute. "In Denmark, we have an identifiable registry on all childhood vaccinations going back to 1990." Thimerosal was removed from the Danish pertussis vaccine in 1992.
"Since then, we have been able to follow up all these children with respect to the eventual development of autism," Melbye says. "We compute that there is no difference in the risk of autism in those children who got the vaccine with or without thimerosal."
The exhaustive study includes records on all the 467,450 children born in Denmark between January 1, 1990, and December 31, 1996. It finds no significant difference between the incidence of autism and other such problems in children who received the vaccine with or without thimerosal, and no indications of a dose-response relationship between autism and the amount of ethylmercury received through thimerosal.
"Previous studies have not looked at personally identifiable data," Dr Melbye says. "We were able to look at the incidence curve for autism and find no sign that it correlates with thimerosal exposure."
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