Monday, November 10, 2014

Genetic discovery from UCL Institute of Child Health and Great Ormond Street Hospital could lead to neurodegeneration treatments




     A team from the UCL Institute of Child Health and Great Ormond Street Hospital could be on the verge of developing new therapies to handle neurological degeneration and loss of motor skills. After reading an article in the American Journal of Human Genetics, the team led to identify a rare condition that causes poor motor control and intellectual disability. It was found that an absent protein that causes the syndrome could be the key to find new and improved treatments.

     Two teams, ICH researches and GOSH clinical geneticists worked together and identified specific characteristics in two unrelated families. The affected children had moderate to severe intellectual disability, progressively coarsening facial features and limited hearing and speech. The children also had relatively large heads. Even though their heads were quite large, they had a relatively small cerebellum. Having a small cerebellum could be damaging due to the fact that it is the part of the brain normally packed with neurons, which play a key role in controlling motor function. As stated in the article, “all the children had limited mobility as a result of this cerebellar atrophy; four could only walk with assistance, and two had not progressed beyond crawling.”

     To discover a mutated gene found in both families, the teams used genetic mapping and next generation sequencing. The findings determined the syndromes that the children had were due to the mutation. The mutation of the affected gene, Sorting Nexin 14 (SNX14), led to the loss of a protein that is crucial to development. Because the researchers were able to identify the absent protein, they hope to develop new drug therapies to help development continue without the mutation affecting it.

     The team is hoping to continue the research with those missing the protein to help find a cure. As said by the team, "We can now develop model systems to help us in this task and potentially develop therapeutic treatments that might prevent or alleviate neurodegenerative damage, which leads to loss of both motor and intellectual function."

     Finding that the absence of a specific protein in the cause of this syndrome is remarkable. Knowing the cause is the first big step. Finding the drug or therapies to cure or treat this will be a lot easier now that scientists have a specific area to target.


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

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