Autism Genetics Research Tips
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Chromosomes Associated With Autism Spectrum Disorders
One point on which genetic researchers studying autism will agree is the multigenetic requirement for this disorder, also known as polygenic inheritance. This means that more than one gene is attributed to autism. Since it is a spectrum disorder with a wide range of symptoms and varying degrees of severity, this theory is not unfounded. Numerous genes on several different chromosomes are being investigated. Much of the research so far examines five different chromosomes thought to have a direct link to autism--chromosomes 2, 3, 7, and 15 as well as the X chromosome. Here is a brief update of some of the results:
- Chromosome 2 is the second largest chromosome in the human genome and is associated with language development. The gene SLC25A12 located on this chromosome has an increased presence in individuals with autism and their family members compared to families without autism.
- Chromosome 3 contains genes linked with early brain development. Dysfunction in these genes may cause mixed messages in the brain cells and improper early brain development.
- Chromosome 7 is associated with language development and recent studies have found disruption of the MET gene on this chromosome is linked to autism and a gastrointestinal disorder with which it is commonly associated.
- Duplications of certain regions on chromosome 15 are associated with a lack of language skills, seizures, and anxiety and are seen more frequently in individuals with autism.
- The X chromosome is directly linked to Rett's disorder, another developmental disorder fwhich alls within the autism spectrum. Rett's syndrome is more common in females; The condition is fatal in males. Chromosome X is also linked to the chemical messages passed through the central nervous system. Genes located on this chromosome make proteins called neuroligins. These proteins work with the central nervous system to help cells chemically communicate with each other.
Why Genetics are Suspected to be Linked to Autism
Did you know that individuals who have siblings with autism or related pervasive developmental disorders have a greater chance of having the disorder as well? Studies also show that identical twins are more likely to share autistic traits than fraternal twins. These are major indicators that there may be a genetic cause for autistic disorder. Current research says that there may be other factors that contribute to the autism including gene abnormality and gene mutation. The combination of gene mutations might help to explain why there is such a wide spectrum of abilities in individual who have autism or related pervasive developmental disorders. Some cases of autism are quite severe while others are very mild. If the problems are caused by a combination of different genetic abnormalities then we can expect the disorder to manifest itself in a number of ways. Researchers are targeting certain chromosomal regions in order to pinpoint the specific genes that may have a direct link to autistic disorder. As of right now there is no conclusive evidence that all pervasive developmental disorders are caused by genetic mutations.
New Findings in Autism Research
The new developments in the study of autism and related pervasive developmental disorders are actively in progress. So much so that as this document is being written new and exciting information about autism and genetics has surfaced that may help us gain a better understanding of the disorder. The article, "New Autism Gene Doubles Risk" by Daniel DeNoon discusses the MET gene that has recently received some attention in autism research. Many recognize that autism is a disorder that affects social and learning development but it may also affect the body as well. The MET gene may explain why digestive problems like "leaky gut" are so prevalent among the autistic population. The complex interaction between the MET gene and environmental factors may be involved with the occurrence of autism and related pervasive developmental disorders/
