這一成果發(fā)表在最新的一期《Annals of Neurology》上，它是國際神經(jīng)學的最好刊物之一,。完成此項工作的是西澳大利亞醫(yī)學研究所（WAIMR）的分子遺傳學實驗室的Nigel Laing教授和Kristen Nowak博士領(lǐng)導的小組,，他們和數(shù)位歐洲的研究者進行了合作。
??Laing表示他的小組發(fā)現(xiàn)歐洲的一些天生缺乏一種關(guān)鍵骨骼肌肌動蛋白的兒童并未在出生時發(fā)生麻痹,，而且可以進行一些肌肉運動,。Laing教授說：“這些重要的發(fā)現(xiàn)能幫助更好的了解其中的機理，這些缺少骨骼肌肌動蛋白的兒童在肌肉中存在另一種形式的蛋白,，叫做心臟肌動蛋白,。”
??Laing表示這些發(fā)現(xiàn)非常激動人心，他說：“我們發(fā)現(xiàn)在骨骼肌中存在越多的心臟肌動蛋白,，能進行的運動就越多,。在人類出生之前，在骨骼肌中同時存在兩種肌動蛋白,，但是在出生時心臟肌動蛋白被關(guān)閉,，而其中的機理尚不清楚?？茖W家長久以來相信,，一旦能找到發(fā)現(xiàn)重新打開心臟肌動蛋白的方法，就能為治療肌無力癥找到新手段,。”
??他接著說：“值得注意的是這些兒童能自動進行這一過程,，用以中和身體的癥狀。如果我們能找到其中的機理就能幫助這些患病的兒童,。”患有這些疾病的兒童在骨骼肌肌動蛋白基因存在隱性突變,，這會關(guān)閉基因功能。隱性突變意味著患者的健康雙親都是這一基因的攜帶者,。Laing的實驗室是第一個發(fā)現(xiàn)這一相關(guān)基因的機構(gòu),。
英文原文：
Key finding in rare muscle disease
The finding is in the current issue of Annals of Neurology, a leading international neurology journal, in work led by Professor Nigel Laing and Dr Kristen Nowak of the Laboratory for Molecular Genetics at the Western Australian Institute for Medical Research (WAIMR) and done in collaboration with a number of European researchers.
Professor Laing said his team had discovered a number of children across Europe who, despite a complete absence of the crucial skeletal muscle protein actin, were not totally paralysed at birth, and managed to have some muscle movements.
"This intriguing finding led us to look deeper and what we saw is that while these children do not have any skeletal actin in their skeletal muscle, they have another form of the protein, known as heart actin, in their skeletal muscles," said Professor Laing.
"It appears the more heart actin they have in their skeletal muscles, the more movement they have."
Professor Laing said the finding was providing much excitement.
"Before we are born, we all have both skeletal muscle and heart actin in our skeletal muscles, but around the time of birth, we switch off the heart actin – and right now, it's a mystery why this happens," he said.
"We have long believed that if we could find out how to switch the heart actin back on in the skeletal muscle we could use this to create new treatments for these devastating muscle diseases.
"What's remarkable is that these children's bodies have performed this 'switching on' process naturally, presumably to help counteract their condition, and if we can tap into the science of how they've managed to do that, we could perhaps use that information to help other affected children."
