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