Speech Therapy

Genetics of Autism

Researchers across the world are trying to understand the genetics of autism in order to provide effective measures of treatment. No break through regarding genetic inheritance has been made yet, but scientists have now found out that a rare genetic disorder, Tuberous Sclerosis Complex (TSC) could be a cause of the developmental disorder autism.

Tuberous Sclerosis Complex: There has been some light on the genetics of autism after it has been discovered that TSC could lead to neuro-developmental disorders. This very rare genetic disorder leads to complications like epilepsy and autism.

  • The researchers believe that this disorder can be reverted by restoring normal neuron function, which in turn would alleviate the features of autism.
  • In a normally functioning brain, neurons are known to grow only one axon (the nerve fibres that are used for signal transmission) along with several dendrites (much shorter projections that collect information from the other neurons).
  • But, when two genes related to TSC were inactivated (in mice) as a part of the research, the neurons were growing several axons instead of just the one.

The axon-dendrites specification, called polarity is crucial for a proper flow of signals and information in the body.

TSC and Autism: In autism and its related disorders the network of connections in the brain is so abnormal that the parts in the brain either develop too many or too little connections.

  • Most people who suffer from TSC are known to develop autism related disorders.
  • The abnormal brain network observed in the TSC disorder is the very reason for complications like autism to arise.
  • Researchers now believe that autism is also a developmental disconnection disorder.

Suppressing TSC: TSC is caused due to occurrence of lesions in the brain called tubers.

  • These tubers can cause an inactivation in two particular genes that spiral the growth of axons.
  • Rapamycin, a drug used for treating cancer has been found to reduce this multiple axon formation.

The genetics of autism are to date yet to be fully discovered. The latest findings about the genetic disorder TSC can help doctors in exploring the roots of autism.

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