A step further in understanding Autism

There are two new studies of autism that may change the understanding of the disease. In two new studies, single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) have been found to be associated with the disease. These genetic variations were found in genes encoding two types of cellular proteins - cadherins and neurexin. This suggests an importance of neuronal cell adhesion in autism.

The Nature Reviews Genetics article requires free registration to read the synopsis, the actual articles linked at the bottom of the article may require a subscription. Now is a time when I would push open access because there are a number of people who should be able to read and understand these findings, as autism is one of the least understood disorders despite its prevalence. And the myths of its etiology need to be altered to include the truth as its discovered.

Another recent finding was the increased size of the amygdala in toddlers with autism. A 13% size difference in the portion of the brain that processes emotions and faces.

Steps forward to understanding the etiology of the disease and possibly facilitate early intervention.

Genetic protections against HIV

Genetic similarities between individuals who are resistant to HIV infection or the progression to AIDS has been of interest to researchers because of the possibility for new therapies targeting these genes.

Many co-receptors for HIV binding to T cells and viral replication have been found in certain ethnic populations that tend to be less susceptible to infection.

Read more of the introduction to genetic protections against HIV...

Evolutionary rate of mutation

The European Journal of Human Genetics had an interesting news editorial about a recent study ab0ut the loss of chromosomal regions in the human genome. It seems that the rate of mutation, from the development of single nucleotide polymorphisms to visible chromosomal loss, is more constant than previously thought. The research supports the rate of mutation needed for adaptive change in a species.