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Analisis genetik mendukung prediksi bahwa mutasi langka spontan menyebabkan setengah dari autisme

Studi kuantitatif mengidentifikasi 239 gen yang ' kerentanan ' untuk menghancurkan mutasi de novo yang membuat mereka target prioritas penelitian 

Date:

September 22, 2015

Source:

Cold Spring Harbor Laboratory

Summary:

Sebuah analisis baru dari data genetika gangguan spektrum autisme ( ASD ) telah dirilis oleh para ahli . Satu teori yang umumnya dipegang adalah bahwa hasil autisme dari kombinasi kesempatan sering terjadi mutasi gen . Namun studi memberikan dukungan untuk teori yang berbeda : yang menghancurkan mutasi ' ultra- langka ' gen dimana  mereka mengklasifikasikan sebagai " rentan "  , yang memainkan peran kausal dalam kira-kira setengah dari semua kasus ASD . Gen rentan yang mereka lihat  merupakan pelabuhan apa yang mereka sebut LGD , atau mungkin gangguan gen .

................ Mereka menemukan , sebaliknya, bukti lebih lanjut yang menunjukkan bahwa menghancurkan mutasi " ultra- langka "  gen yang mereka mengklasifikasikannya  sebagai " rentan ", memainkan peran kausal dalam kira-kira setengah dari semua kasus ASD . Gen rentan yang mereka lihat  merupakan pelabuhan apa yang mereka sebut LGD , atau kemungkinan gen - gangguan ...........more

Genetic analysis
supports prediction that spontaneous rare mutations cause half of autism

Quantitative study identifies 239 genes whose 'vulnerability' to
devastating de novo mutation makes them priority research targets

Date:

September 22, 2015

Source:

Cold Spring Harbor Laboratory

Summary:

A new analysis of data on the genetics of autism spectrum disorder (ASD)
has been released by experts. One commonly held theory is that autism results
from chance combinations of commonly occurring gene mutations. But the study
provides support for a different theory: that devastating 'ultra-rare'
mutations of genes that they classify as "vulnerable" play a causal
role in roughly half of all ASD cases. The vulnerable genes to which they refer
harbor what they call an LGD, or likely gene disruption.

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

A team led by researchers at Cold Spring Harbor Laboratory (CSHL) this week
publishes in PNAS a new analysis of data on the genetics of autism spectrum
disorder (ASD). One commonly held theory is that autism results from the chance
combinations of commonly occurring gene mutations, which are otherwise
harmless. But the authors' work provides support for a different theory.

They find, instead, further evidence to suggest that devastating
"ultra-rare" mutations of genes that they classify as
"vulnerable" play a causal role in roughly half of all ASD cases. The
vulnerable genes to which they refer harbor what they call an LGD, or likely
gene-disruption. These LGD mutations can occur "spontaneously"
between generations, and when that happens they are found in the affected child
but not found in either parent.

Although LGDs can impair the function of key genes, and in this way have a
deleterious impact on health, this is not always the case. The study, whose
first author is the quantitative biologist Ivan Iossifov, a CSHL assistant
professor and on faculty at the New York Genome Center, finds that "autism
genes" - i.e., those that, when mutated, may contribute to an ASD
diagnosis - tend to have fewer mutations than most genes in the human gene
pool.

This seems paradoxical, but only on the surface. Iossifov explains that
genes with devastating de novo LGD mutations, when they occur in a child and
give rise to autism, usually don't remain in the gene pool for more than one
generation before they are, in evolutionary terms, purged. This is because
those born with severe autism rarely reproduce.

The team's data helps the research community prioritize which genes with
LGDs are most likely to play a causal role in ASD. The team pares down a list
of about 500 likely causal genes to slightly more than 200 best
"candidate" autism genes.

The current study also sheds new light on the transmission to children of
LGDs that are carried by parents who harbor them but whose health is nevertheless
not severely affected. Such transmission events were observed and documented in
the families used in the study, comprising the Simons Simplex Collection (SSC).
When parents carry potentially devastating LGD mutations, these are more
frequently found in the ASD-affected children than in their unaffected
children, and most often come from the mother.

This result supports a theory first published in 2007 by senior author
Michael Wigler, a CSHL professor, and Dr. Kenny Ye, a statistician at Albert Einstein
College of Medicine. They predicted that unaffected mothers are
"carriers" of devastating mutations that are preferentially
transmitted to children affected with severe ASD. Females have an as yet
unexplained factor that protects them from mutations which, when they occur in
males, will be significantly more likely to cause ASD. It is well known that at
least four times as many males as females have ASD.

Wigler's 2007 "unified theory" of sporadic autism causation
predicted precisely this effect. "Devastating de novo mutations in autism
genes should be under strong negative selection pressure," he explains.
"And that is among the findings of the paper we're publishing today. Our
analysis also revealed that a surprising proportion of rare devastating
mutations transmitted by parents occurs in genes expressed in the embryonic
brain." This finding tends to support theories suggesting that at least
some of the gene mutations with the power to cause ASD occur in genes that are
indispensable for normal brain development.







Story Source:

The above post is reprinted from materials provided
by Cold Spring Harbor Laboratory. Note:
Materials may be edited for content and length.







Journal Reference:

1.   
Ivan Iossifov, Dan Levy, Jeremy Allen, Kenny Ye, Michael Ronemus, Yoon-ha
Lee, Boris Yamrom and Michael Wigler.Low load for disruptive mutations in
autism genes and their biased transmission. PNAS, September
2015 DOI: 10.1073/pnas.1516376112

http://www.sciencedaily.com/releases/2015/09/150922150236.htm

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