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Autism Diagnoses: Rare Mutations and Autistic Impairments

For now, we know that Autism Spectrum Disorder is a condition related to brain development. An important public health concern, this disability is known to cause issues in social interactions, affect communication and raise the difficulty for basic learning skills. We at Small Steps Big Dreams in Dubai, UAE has gone through extensive research and autism diagnoses to better understand and help spread awareness regarding this disorder.

Over time, ASD has been linked to mutations in a number of genes. In one of the more recent studies, in fact, rare mutations that exist in autism genes have been brought to light. These tend to affect the I.Q of an autistic child, lowering them as compared to those with typical mutations.

Rare Mutations

The disorder is understood to be highly heritable with consensus estimates suggesting that 50-60% of ASD etiologies are genetic. Most particularly, de novo mutations have been implicated as one of the underlying causes where genetics is concerned.  These mutations have provided a rich source for the comprehension of pathogenic genes and neurobiological mechanisms of ASD.

Usp9x and Ankyrin-G

Peter Penzes, director of the new Center for Autism and Neurodevelopment, and Ruth and Evelyn Dunbar Professor of Psychiatry and Behavioral Sciences has claimed that they might have discovered a new possibility of understanding autism better. Decoding how rare mutations cause intellectual and mental disabilities could lead to better support and autism treatment.

A group of scientists from the Northwest found that genetic mutations in a gene called Usp9x can impact the brain in such a way that it a marked decrease in the growth of synapses can be observed. This is believed to be due to the connection between Usp9x and another protein called ankyrin-G, for which it acts as a shield. Essentially, this protein assists the synapses in growth and stabilizing.

A brain’s development depends on the synapses between the neurons. This way the cells can communicate and learn,  while the brain grows. However, if and when the Usp9x undergoes mutation, it will no longer be able to stabilize ankyrin-G, the protein that can enhance synapses. Therefore, the enhancing protein reduces and destabilizes, consequently decreasing the synapses in the brain according to the study.

An autistic child, with this mutation, can experience developmental delay, difficulties in learning, increased anxiety and hyperactivity.


Study on Boston Children’s Hospital


The lab of Timothy Yu, MD, Ph.D., decided to go in another direction with tracking rare recessive mutations, in which a child might inherit two “bad” copies of a gene. This study involved one of the largest cohorts to date and suggests that recessive mutations might be more common in Autism Spectrum Disorder than was initially thought of.

Effect on Intellectual Disability

Any mutations having taken place in a gene called TRIP12 can potentially lead to intellectual challenges, language delay, and ASD. TRIP12 enciphers a protein that tags other proteins for damage. This gene was recently taken in consideration as a probable cause of ASD.

Studies in 2014 have deductively uncovered harmful mutations in at least four people with autism, but it was indicated to not have been inherited. Another 2015 study revealed a small deletion that erased the protein in an autistic individual. A similar gene called  UBE3A is inwoven in autism, as well as in a related condition called Angelman syndrome.

Autism specialists have stated that Individuals with spontaneous, destructive CNVs or rare genetic mutations are more prone to having lower I.Q. Going through the studies and literature reviews, we are shown that less than 1 per cent of autistic individuals undergo harmful mutations in autism-associated genes that can occur spontaneously, for example ANK2 and BAZ2B. Though, further studies are still being carried out on the matter.

Further Research into Rare Mutations

Approximately out of a hundred, at least thirty people are diagnosed with ASD. These also include those who have an intellectual disability, constituting an IQ level below 70. If we can investigate how and which genes are associated with Autism Spectrum Disorder, we may achieve more precise autism diagnoses, and offer insights into the molecular roots of the disorder. That is why, we at Small Steps Big Dreams in Dubai, UAE have made it our mission to highlight researches aiding the understanding of the biological bases of ASD and related neurodevelopmental disorders.

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