Genes linked to learning disorders

 Dyslexia is a type of intellectual disability that affects one's reading and writing skills. Diagnosed individuals may struggle processing sounds, spelling, and transferring information from written to spoken form and vice versa. This not only interferes with academic success, but also with day to day life reading signs or writing emails. It appears to be a hereditary disorder, but until recently, there was not anymore information about the cause.

Michelle Luciano and her team at the University of Edinburgh sought to find more concrete genetic causes for dyslexia. They conducted a study that compared the genomes of over a million people to see if there were noticeable difference between those with dyslexia and those without. They were able to find 42 variants that were significantly found much more in those with dyslexia. There did not appear to be any difference in these variants between sexes, ages, or ethnicity. These traits seem to only have small effects when acting alone which is common for polygenic traits - implying that the genetic basis of dyslexia is very complex. 

I think this research is both fascinating and important. Learning more about the genetic causes for intellectual disorders could ultimately help mend the academic gap that many students find themselves in. Often times the school does not have the resources or training to properly accommodate students with learning disabilities. As a result there academic progress slows down or get put on hold and the older a student gets, the harder it is to catch back up. However, if we are able to prescreen embryos and babies for things like dyslexia, we could immediately implement the techniques need to limit the effect on their reading and writing. Focusing on it from a young age will make them more likely for success in secondary and higher education.

Genetics Finding to Permit Treatment of Cerebellar Degeneration

A rare condition of neurological degeneration has been found to exist between two distinct families by ICH researchers and GOSH clinical geneticists, as published in the American Journal of Human Genetics. The condition has been characterized by intellectual disability and poor motor control. Children impacted by this disorder have been identified to have specific facial features, limited hearing and speech, intellectual disability, and large heads. The cerebellums, which are responsible for contributing greatly to coordinating body movements, of these individuals have also been found to be smaller than normal. This results in compromised motor function; the majority of the children found to have the condition can only walk with assistance, and two children never advanced past crawling as far as motor development.

A research team from the UCL Institute of Child Health and Great Ormond Street Hospital has utilized next generation sequencing and gene mapping to identify a gene that has been mutated in individuals of both families. This is specifically the Sorting Nexin 14 (SNX14) gene; the mutation has been found to result in the loss of a protein crucial to the growth and preservation of the cerebellum. Researchers also found a third family with defect to the same gene; this increased the total number of catalogued children with the condition to seven. In finding that this protein is lacking in those with this particular genetic mutation, researchers hope to develop therapies that may relieve the symptoms of those with this new and rare neurodegenerative condition.

This information will help not only with further characterization of this particular disease and development of treatments to counteract the mutated gene and lack of protein production, but also with research on development of the cerebellum. While attempting to ascertain new drug therapies to treat this neurodegenerative condition, scientists will also learn more about the process of cerebellar degeneration.

I found this article to be quite fascinating in the identification of a rare genetic neurodegenerative disorder among only seven children. It is absolutely amazing that upon genetic analysis, all those found to suffer from this condition have a mutation to the same exact gene resulting in lack of production of a specific protein. The cerebellum plays a crucial role in the coordination of motor functions; and thus, it remains important that researchers work on drug therapies to alleviate the symptoms of the condition. There also exists the possibility that the discovery of other information pertaining to neurological development may contribute to treatment ventures for other diseases of the brain.

Link to Article: http://www.medicalnewstoday.com/releases/285018.php

Related Links:

http://neuroscience.uth.tmc.edu/s3/chapter05.html

http://www.ncbi.nlm.nih.gov/gene/57231