Genetic variation is the new “gold standard” for diagnosing autism.
So what can you look for in a patient?
A new article from Vice News outlines the most common genetic variations you should be wary of, including some that might help explain why you might get the disease.
“In a nutshell, genetic variation means that there is variation in the genetic material of the human genome,” explains the article.
This variation can be either from a specific gene, which is passed down from generation to generation, or from a region of the genome that codes for proteins, like proteins that are involved in brain development.
Genes and regions of the brain vary in size, shape, and function, but there are a few areas of the DNA that seem to be responsible for determining which one of those is dominant or recessive.
A person with autism may have a gene that codes to a protein that makes it more likely to activate certain proteins in the brain.
People with autism also have a variant that is responsible for making the protein less likely to bind to the protein that activates the protein involved in memory.
These are the same genes that are the source of the variation.
“These variants could be telling us something about what the risk of autism is,” explains Dr. David Schreiber, a psychiatrist at the University of Texas Medical Branch at Galveston and an author of the article published in the Journal of the American Medical Association.
“This could help us diagnose autism, but the fact that the variation can also be predictive of what we might be looking for means it could also be a potential sign of something else.”
The most common genes that can cause autism are those that code for proteins called activators of transcription (ACTs), which regulate genes in the cell, cell division, and other cellular processes.
ACTs can also have different roles in different cells.
When the same gene is activated in the same cell, it can make different proteins, which can then be used to build the cell.
These different proteins can cause different kinds of diseases.
For example, some people with autism have an enzyme that can make a protein called the activator of transcription-1 that makes a protein known as the activators protein.
The activators proteins bind to receptors called G protein-coupled receptors (GPCRs), which can trigger the production of proteins called G proteins.
The activation of the activations protein can cause the activation of a protein found in the outer mitochondrial membrane.
Activators proteins also have other functions, including protein kinase B (PKB) activity, which leads to cell death.
Other ACT-associated proteins that may be linked to autism include a protein responsible for protein synthesis called PKA-1, and the activating protein for proteins known as CREB.
If you have the correct genes for both ACT and GPCR, your body may have an array of proteins that can regulate how cells work, but if you have a mutation that makes you more likely, the cells may have more difficulty producing the right proteins.
“The fact that you can have a disease that affects one of these genes is one of the reasons why people with genetic variations are so concerned about the impact of these mutations on the development of the disease,” says Schreib.
“We know that these changes in the proteins are very important in the development and function of the cell.”
Understanding the genetics of autism The article describes the most commonly seen genetic variants as having a genetic variation that “tells us something” about autism.
“It’s a very broad term, and it includes a lot of different things, but a genetic variant is just a piece of the puzzle that explains a lot about autism,” explains Schreibus.
There are several reasons why a mutation in one of your genes might be associated with autism.
The first is that the mutated gene can be expressed in different tissues, which may lead to different kinds, if not different types of disease.
Another genetic variant that may help explain autism is that your cells may not recognize your altered gene, and this can lead to a loss of function.
“A loss of expression of a gene may lead a cell to stop making certain proteins,” explains Stacey Smith, MD, associate professor of psychiatry and neurology at the Yale University School of Medicine.
“They’re not responding to the correct signals, so they’re not producing what they’re supposed to be producing.
And in some cases, that can lead, for example, to an abnormal immune response that’s not normally seen in children.”
For example: Some people with mutations in the gene that encodes the protein activator-1 have autism.
These mutations cause a loss in the enzyme that converts the activates protein to a non-activating form, called the protein phosphatase-1.
This enzyme is involved in cell growth, and a deficiency in the protein might be the cause of autism.
Other people with this mutation may have normal expression of the protein.
They may not be able to make the activated protein