Genetic interactions responsible for neuro disorders
Genetic interactions are responsible for
neurodevelopmental disorders, a recent study has found. Genes located in a
large chromosomal aberration, associated with autism, interact with each other
to modulate the variable symptoms of the disease. A team, led by Penn State
researchers, tested the role of these genes individually.
“As opposed to diseases that are caused by mutations
in single genes, autism and other neurodevelopmental disorders have a complex
etiology that can be the result of many interacting genes,” said the lead
author of the paper, Santhosh Girirajan.
The researchers focused on a large deletion on
chromosome 16 that spans over 500,000 base pairs of As, Ts, Cs, and Gs that
make up double-stranded DNA and was first discovered in individuals with
autism. The researchers turned to the fruit fly, Drosophila melanogaster, to
try to identify how the deletion on chromosome 16 was causing these symptoms.
“Although we only tested the 14 fly counterparts of
the 25 human genes, our results suggest a model that can be applied to the
overall mechanism of disease caused due to this deletion,” said a postdoctoral
researcher in the Girirajan lab and an author of the paper, Janani Iyer.
Using a technique called RNA interference in which a
short piece of RNA can be designed to reduce the expression of a particular
gene in either the entire fly or in a particular tissue, the researchers first
tested each of the individual genes in the chromosome 16 deletion that have
counterparts in the fly. “Based on our results, we suggest a new model for the
pathogenicity of the chromosome 16 deletion and other large regions of copy
number variation in the genome,” said Girirajan.
The full findings are published in the journal- Nature
Communications.
02.07.2018
Gratitude makes sense of our past, brings peace for
today, and creates a vision for tomorrow
Melody Beattie
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