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Peneliti menemukan biomarker untuk autisme yang dapat membantu diagnosa

Penelitian juga menunjukkan potensi kemajuan penemuan obat baru

Date:

September 22, 2015

Source:

University of California - Irvine

Summary:

Dengan mengidentifikasi  sinyal kunci cacat dalam struktur membran tertentu dalam semua sel , peneliti percaya bahwa mereka telah menemukan  biomarker yang dapat diandalkan yang mungkin untuk mendiagnosis bentuk-bentuk tertentu dari autisme dan target terapi yang potensial .

............ Dr. J. Jay Gargus , Ian Parker dan rekan-rekannya di UCI Pusat Autism Research & Translation  periksa biopsi kulit pasien dengan tiga jenis genetik yang sangat berbeda dari gangguan ( fragile X syndrome  dan tuberous sclerosis 1 dan 2 ) . Mereka menemukan bahwa proses signaling kalsium seluler yang melibatkan reseptor trisphosphate inositol sangat banyak berubah .

Cacat fungsional IP3R ini terletak di retikulum endoplasma , yang merupakan salah satu kompartemen membran khusus dalam sel yang disebut organel , dan dapat mendukung gangguan kognitif - dan mungkin masalah pencernaan dan kekebalan tubuh - yang berhubungan dengan autisme .........more

Researchers find
biomarker for autism that may aid diagnostics

Study also points to potential new drug discovery advances

Date:

September 22, 2015

Source:

University of California - Irvine

Summary:

By identifying a key signaling defect within a specific membrane structure
in all cells, researchers believe they have found both a possible reliable
biomarker for diagnosing certain forms of autism and a potential therapeutic
target.

........................

By identifying a key signaling defect within a specific membrane structure
in all cells, University of California, Irvine researchers believe, they have
found both a possible reliable biomarker for diagnosing certain forms of autism
and a potential therapeutic target.

Dr. J. Jay Gargus, Ian Parker and colleagues at the UCI Center for Autism
Research & Translation examined skin biopsies of patients with three very
different genetic types of the disorder (fragile X syndrome and tuberous
sclerosis 1 and 2). They discovered that a cellular calcium signaling process
involving the inositol trisphosphate receptor was very much altered.

This IP3R functional defect was located in the endoplasmic reticulum, which
is among the specialized membrane compartments in cells called organelles, and
may underpin cognitive impairments -- and possibly digestive and immune
problems -- associated with autism.

"We believe this finding will be another arrow in the quiver for early
and accurate diagnoses of autism spectrum disorders," said Gargus,
director of the Center for Autism Research & Translation and professor of
pediatrics and physiology & biophysics. "Equally exciting, it also
presents a target of a molecular class already well-established to be useful
for drug discovery."

Study results appear online in Translational Psychiatry, aNature publication.

Autism spectrum disorder is a range of complex neurodevelopmental disorders
affecting 2 percent of U.S. children. The social and economic burden of ASD is
enormous, currently estimated at more than $66 billion per year in the U.S. alone.
Drug development has proven problematic due to the limited understanding of the
underlying causes of ASD, as demonstrated by the recent failure of several much
anticipated drug trials.

There are also no current, reliable diagnostic biomarkers for ASD. Genetic
research has identified hundreds of genes that are involved, which impedes
diagnosis and, ultimately, drug development. There simply may be too many
targets, each with too small an effect.

Many of these genes associated with ASD, however, have been found to be
part of the same signaling pathway, and multiple defects in this pathway may
converge to produce a large functional change.

The UCI scientists detected such a convergence in the IP3R calcium channel
in an organelle called the endoplasmic reticulum. Organelles are membrane
structures within cells with specialized cellular functions. According to
Gargus, diseases of the organelles, such as the ER, are an emerging field in
medicine, with several well-recognized neurological ailments linked to two
other ones, the mitochondria and lysosomes.

The IP3R controls the release of calcium from the ER. In the brain, calcium
is used to communicate information within and between neurons, and it activates
a host of other cell functions, including ones regulating learning and memory,
neuronal excitability and neurotransmitter release -- areas known to be
dysfunctional in ASD.

"We propose that the proper function of this channel and its signaling
pathway is critical for normal performance of neurons and that this signaling
pathway represents a key 'hub' in the pathogenesis of ASD," said Parker, a
fellow of London's Royal Society and UCI professor of neurobiology &
behavior, who studies cellular calcium signaling.

To see if IP3R function is altered across the autism spectrum, clinical
researchers at the Center for Autism & Neurodevelopmental Disorders --
which is affiliated with the Center for Autism Research & Translation --
are currently expanding the study and have begun to examine children with and
without typical ASD for the same signaling abnormalities. These patients
undergo complete behavioral diagnostic testing, and sophisticated EEG, sleep
and biochemical studies are performed. This includes the sequencing of their
entire genome. Also, skin cell samples are cultured and made available to
lab-based researchers for functional assays.

In the area of drug discovery, scientists at the Center for Autism Research
& Translation continue to probe the IP3R channel, specifically how it
regulates the level of neuron excitability. The brains of people who have
autism show signs of hyperexcitability, which is also seen in epilepsy, a
disorder increasingly found to be associated with ASD. Cells from individuals
who have autism exhibit depressed levels of calcium signaling, and this might
explain why these patients experience this hyperexcitability. By restoring the
release of calcium from the IP3R, the researchers believe, they can apply a
"brake" on this activity.







Story Source:

The above post is reprinted from materials provided byUniversity
of California - Irvine. Note: Materials may be edited for content
and length.







Journal Reference:

1.   
G Schmunk, B J Boubion, I F Smith, I Parker, J J Gargus.Shared
functional defect in IP3R-mediated calcium signaling in diverse monogenic
autism syndromes.Translational Psychiatry, 2015; 5 (9): e643 DOI:10.1038/tp.2015.123

http://www.sciencedaily.com/releases/2015/09/150922150228.htm

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