Posts Tagged ‘Causes of Autism’

Chromosome 5 Found To Be a Significant Link to Autism Disorder

Monday, March 22nd, 2010

chromosome imageIf you’re like the majority of the population you’re not exactly a master at all of the technical terms that are thrown about in studies of  various treatments for Autism. Whenever I do any kind of article reading, I’m sure to have my search engine open and ready to go, in order to find the “lay-man’s terms” for different words and medical jargon. Truth be told, it’s a lot

A new study of chromosomes has found a connection between chromosome 5  and Autism.  Great, right? But, what does it all mean?

What’s a Chromosome? The need-to-know basics.

Chromosomes are found in the cell nucleus and consist of long chains of nucleic acids coated with protein. Each chromosome contains hundreds or thousands of the genes that form our hereditary blueprint. Humans have 23 pairs of chromosomes, 46 total. Each parent contributes 1 chromosome to each pair.

Each chromosome has genes that determine almost every detail about us as a person. For example, some of the genes that are located on Chromosome 5 are: Pikachurin - which is responsible for the eye’s ability to track moving objects; FGFR4 which is the fibroblast growth factor receptor, and SMN1 and SMN2 -the survivor motor neurons.

Chromosome Disorders

Chromosome disorders occur if there is an an alteration in the number of chromosomes in the nucleus of a cell, or if there is an alteration of the structure of a chromosome. One of the chromosome’s that researchers have looked at in depth recently is chromosome 5.

Chromosome 5 represents almost 6% of the total DNA in cells. Changes to chromosome 5 have been linked to certain types of cancers and Chron’s Disease. A recent study suggests that chromosome 5 may play a major role in Autism cases as well.


Chromosome 5 and Autism - The Connection

An in depth genetic scan of Autism families found an area on chromosome 5 that is strongly associated with Autism. In the October 2009 issue of Nature, it was also said that there were two genomic areas that may harbor typically rare variants relevant to Autism.

There have been previous studies on how genes and chromosomes may affect Autism. These studies have found possible links on chromosomes 15, 16 and 5, but this is the first study that has concentrated the area of chromosome 5 to the 5p15 region. The study has found that a specific gene, SEMA5A (or semaphorin 5A), that is responsible for enabling  neurons to their targets, may have a role in Autism Disorders.

For this particular study, the genomes of 1,031 families were examined. Furthermore, each family was considered a ‘multiplex’ family, or, families with multiple members with Autism Disorders. One method of study that took place was comparing the genes and chromosomes of the family members with the disorder to find like variants. The other method concentrates on comparing people with the disorder with people without the disorder to find similarities and differences to better understand where some causes of the disorder may lie.

A combination of these methods allowed researchers to discover that chromosomes 6 and 20 are are significantly linked with Autism. Additionally, another area on chromosome 5 was found to carry a link as well. The new area, or nucleotide is in very close proximity to  SEMA5a. The variant is protective. In other words, it’s presence decreases the risk of Autism

Despite previous proof that Autism is a hereditary disorder, the genetic scan turned up very few genetic markers. It is believed by many that a mix of common variants that are prominent in 5% of the population as well as some rare variants are more contributory to Autism.

Bottom line - What does this all mean?

Simply put, this means that research is progressing and the causes of Autism are becoming more and more discoverable. Causes, after all, are the first step to finding a treatment. Because Autism truly is a puzzle of a disorder, finding one universal treatment may not be right around the corner. However, the more we find links to the cause, the more treatments we can find that satisfy what particular “form” of Autism is affecting our loved ones.


Bookmark Chromosome 5 Found To Be a Significant Link to Autism Disorder

Risk of Autism Higher in Children Born to Older Women

Monday, February 22nd, 2010
Autism Awareness Ribbon

Autism Awareness Ribbon

The universal symbol for autism is a puzzle piece. It’s pretty symbolic if you think about it. There are a lot of pieces to the Autism puzzle - some we’re aware of and others that we aren’t. Another piece of the Autism puzzle has fallen into place after a study done by the University of California, Davis.

The study, published in the February issue of the Autism Research Journal took into account over 4.9 million children born in California in the 90’s.  Researchers found that the mother’s age when giving birth had a direct affect over the child’s risk of developing Autism. This is particularly true for women over the age of 40 as they are 50% more likely to give birth to an Autistic child than women who give birth at ages 25-29.

Additionally, for every 5 years maternal age, the risk of Autism is increased by 18%.  Some studies have indicated that a father’s age also had an effect on the statistics and risk. In this particular study, researches found that the father’s age had no effect on the Autism risk when the woman’s age was over 30. It isn’t until you combine a man over 40 and a woman under the age of thirty. For example, if a man over 40, and a woman under 25 conceive a child, the risk of Autism in that child is double that of a father between ages of 25-29 and a woman of the same age.

In the 90’s, the number of women who gave birth in California went up 300%. Autism cases sky rocketed by about 600%. This study shows the clear correlation of the age of women giving birth and the risk of the child developing Autism, but researchers and experts point out that these cases only account for 5% of the overall cases of Autism that exist.

Despite the seemingly small impact that this study has on the overall spectrum that is Autism, it’s very important to realize that Autism is a very complicated disorder to investigate. There are many “pieces” to the puzzle, and though this is only one small piece, it’s a collective amount of these small pieces that when put together, that make Autism more known, understood, and hopefully someday, cured.

Bookmark Risk of Autism Higher in Children Born to Older Women
Blog DirectoryDmegs Web Directory
Health Blog Directory
Web Directory
Submit Blog Directory