Lack of Specific Gene
The Research
The researchers at Case Western Reserve University, led by Gary Landreth, have pulled together a number of recent findings that link a common genetic pathway with a number of human syndromes and a newly-recognized genetic form of autism. The findings is published in the January 29, 2009, issue of the prestigious journal Neuron.
ERKs
Landreth has been researching the class of enzymes called ERKs (extracellular signal regulated kinase).
ERKs are the central elements of a major intracellular signal transduction pathway. His research team has found that in animal models the ERKs – known as ERK 1 and ERK 2 – are required for normal brain, heart and facial development.
Links Between ERKs and Autism
ERK is the common genetic pathway that acts to regulate the ERK signaling cascade. It is particularly important in brain development, learning, memory and cognition. It has been recently reported that mutation or deletion of elements within this signaling pathway leads to developmental syndromes in humans that are associated with impaired cognitive function and autism.
According to Landreth, these syndromes, called neuro-craniofacial-cardiac syndromes (NCFCs), encompass a group of syndromes also typified by cardiac, craniofacial and neurological defects. Current research has found that they arise from mutations in the intracellular signaling pathway that regulates ERKs.
Landreth commented that “very recently it was discovered that 1 percent of autistic children have either a loss or duplication in a region of Chromosome 16 that encompasses the gene for ERK 1,”. “What no one else realized is that the autistic children also have craniofacial and cardiac defects just like those children with NCFC syndromes.”
Mutations within the ERK signaling pathway appears to be a common cause for NCFC syndromes and those children with autism due to genetic changes in chromosome 16.
He continued, “Unexplained is why loss of ERK 1 is associated with autism and other ERK pathway mutations cause mental retardation and similar diseases,” “Our contribution to the autism story is that we recognized it was just like the NCFC syndromes and we are hypothesizing that they all arise from defects within a single genetic pathway.”
