Whether genetics can find a cure for autism?
We live in genetic epoch. Genetic has a good improvements in diseases treatment such as cystic fibrosis and breast cancer animate hope that genetic can provide a cure for all ill in the world. When we hear that mental disorders in cell we might surprise what plan is being happened.
One paper in the journal cell into the psychiatric condition autism suggests not the condition’s frightened genetic complexity but we can with way of compound genetic materials approaches to potential cure until we can cure the diseases. One of study on autistic child with a rare genetic mutation of a special gene and these gene in science called UBE3A has showed a possible treatment.
Autism disease or more truly autism spectrum disorder (ASD) , among one in 100 individuals suffers of this disease and we can see the symptoms of illness in during early childhood. The disease has a diverse symptoms but include difficulties with communication and social interaction and repetitive behavior or motions.
Big changes and big effects
Evidences and documents shows us that genetics has a marked risk of developing ASD. Gene has written as DNA reserved on chromosomes and genes contain a materials of protein that we called “blueprints” and a duty of this material is control how cells work and this is evidence about a brain cell in children with ASD. But incomparable given the diversity of it’s symptoms there is no evidence for a single genetic mutation.
Actually common documents shows that hundreds of genes may be involved each one of genes having small effect that we called mutation cells. We have a significant risk when mutations occurred at the same time. Most genes are identified by genome wide association studies (GWAS) , this average about genomes of many patients and researchers compares patients. It’s impossible to connect special DNA change to a proper individual. For example: we can see the smoke but we can’t see the gun.
Identifying the accuser
So can genetic studies of ASD risk ever direct to a discovery of a treatment? Geneticists find scarce individuals a large loss or gain of a chromosome to parcel either decrease or increase the number of genes. These chromosomes are very rare and abnormal and these chromosomes tend to have a big effect.
Things are said not always that sample. A losing part of chromosome 15 causes angelman syndrome which has many ASD. Although Dup 15 syndrome one of the chromosome change abundant found in ASD patients. We have a gene that called UBE3A which divided and duplicated in DNA regions. The writers reported some news in scarce samples about DNA mutation in child with ASD. The mutation is not carry of parents but the mutation is new.
Genes can be on\off with changing proteins and genes are responsible for coding. Mutations can inactivate the proteins and turn the switch off but this other cases may change turn the switch on. This is scarce sample which mutation influence in genome.
This is powerful evidence but this search has a good questions: how both a gain of UBE3A activity and a loss of UBE3A. UBE3A turn off to be important for learning. When UBE3A in the nerve cells in brain be activity but the other places it then switched off. This process has a activity cycle but gain or loss of UBE3A causes this cycle don’t occurring. This way may explain why gain and loss of UBE3A is difficulties experienced by people with ASD.
Whether this way help us to cure autism? Zylka and Yi illustrate that drug rolipram might stop hyperactive UBE3A. this case using genetic experiment that determine individuals with increased UBE3A and we can decrease ASD symptoms in this experiment. maybe UBE3A has useful purpose and useful purpose illustrates us how scarce genetic samples suggests a potent strategy to cure autism.
References: iflscience
