UCLAのDaniel Geschwind教授
人間の自閉症と似た症状を持つマウスが作成された。言語と会話を司る脳の回路に重要な役割があり，かつ自閉症のリスクと関係する遺伝子，CNTNAP2が欠損したマウスに，社会的相互作用の異常や行動の反復など，人間の自閉症と同じ症状が認められることがわかった。人間とマウスは神経経路がどの程度類似しているか不明なため，研究者らにとってこの結果は予想外だったという。また，これらのマウスの異常は，人間で同症状の治療に使われる薬剤で軽減されており，このモデルを用いて薬剤開発が進むと期待される。（吉田素子）
UCLA Geneticists Develop Promising Mouse Model for Testing New Autism Therapies
--Autistic Mice Act a Lot Like Human Patients, Study Finds
UCLA scientists have created a mouse model for autism that opens a window into the biological mechanisms that underlie the disease.
The researchers found that autistic mice share similar symptoms and behaviors with people on the autism spectrum, suggesting that mouse brains and human brains are wired surprisingly alike. If so, the model offers a promising way to test new therapies that may one day help people with autism.
The study is published in the Sept. 30 edition of the journal Cell.
"Though many genes have been linked to autism, it remains unclear what goes awry to increase a person's susceptibility to the disorder. We developed a mouse model to observe how a gene variant commonly linked to human autism reveals itself in mice," said. Dr. Daniel Geschwind, who holds UCLA's Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and is a professor of neurology at the David Geffen School of Medicine at UCLA and director of the Center for Autism Research and Treatment at the Semel Institute for Neuroscience and Human Behavior at UCLA.
The UCLA team focused on a gene called CNTNAP2 (contactin-associated protein-like 2), which scientists believe plays an important role in brain circuits responsible for language and speech. Previous research has linked common CNTNAP2 variants to heightened autism risk in the general population, while rare variants can lead to an inherited form of autism called cortical dysplasia-focal epilepsy syndrome (CDFE).
［単語和訳］
Geneticists：遺伝学者 Promising：有望な Mouse：マウス Model：モデル（動物を使った疾患のモデル） Autism：自閉症 Therapies：治療法 Autistic：自閉症の
opens a window into：～を垣間見せる biological：生物学的 underlie：～の根底にある
researchers：研究者 symptoms：症状 autism spectrum：自閉症スペクトラム brains：脳 surprisingly：驚くほど
genes：遺伝子 goes awry：うまくいかない susceptibility：罹りやすさ disorder：疾患 variant：変異体 commonly：一般に Human Genetics：人類遺伝学 neurology：神経学
contactin：コンタクチン -associated：～に関連した protein：タンパク質 -like：～のような heightened：上昇した lead to：～を引き起こす inherited：遺伝の cortical dysplasia：皮質形成異常 focal epilepsy：焦点てんかん syndrome：症候群
