Mutations in 2 Genes Linked to Rare Autism-Related
THURSDAY, Jan. 26 (HealthDay News) -- Newly discovered mutations
in two adjacent genes cause a rare genetic brain condition called
Joubert syndrome, according to a new study.
People with Joubert syndrome have malformation or
underdevelopment of the cerebellum and brainstem, resulting in a
range of physical and mental disabilities such as poor muscle
control and mental retardation.
As many as four in 10 people with Joubert syndrome meet the
criteria for an autism diagnosis and other neurocognitive
disorders, according to background information in a news release
about the research.
In the study, a team led by University of California, San Diego
School of Medicine researchers found that mutations in two adjacent
genes -- TMEM216 and TMEM138 -- cause Joubert syndrome.
"It is extraordinarily rare for two adjacent genes to cause the same human disease," team leader Dr. Joseph Gleeson, a professor of neurosciences and pediatrics, said in the university news release. "The mystery that emerged from this was whether these two adjacent, non-duplicated genes causing indistinguishable disease have functional connections at the gene or protein level."
The researchers conducted evolutionary analysis and concluded
that the two genes became joined end-to-end about 260 million years
ago. The connected genes then evolved simultaneously and became
regulated by the same transcription factors, the authors reported
in the study published online Jan. 26 in
The U.S. National Institute of Neurological Disorders and Stroke
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