由美國國立衛(wèi)生研究院資助的研究者發(fā)現(xiàn)了一個對于神經(jīng)細(xì)胞來說非常關(guān)鍵的主調(diào)控基因：該基因的損傷，將會打破其他相關(guān)基因相互作用制造髓鞘（包圍在神經(jīng)細(xì)胞外的脂層，可以加快神經(jīng)細(xì)胞電信號傳播的速度和保真性）的過程,。
此項(xiàng)發(fā)現(xiàn)將有助于對髓鞘合成紊亂的理解，這些紊亂會影響到外周神經(jīng)系統(tǒng)（在腦和脊柱之外的神經(jīng)）的功能,，我們將之稱為外周神經(jīng)?。╬eripheral neuropathy）。外周神經(jīng)病會導(dǎo)致麻木,、無力,、疼痛和運(yùn)動損傷，還包括一種最為常見的遺傳性紊亂——腓骨肌萎縮癥（Charcot-Marie-Tooth disease）,，該病癥會引起漸行性肌肉萎縮癥,。
研究者揭示出的這個基因是早期生長反應(yīng)基因2（early growth response gene 2；EGR2）,。在研究中,，研究者發(fā)現(xiàn)該基因的單拷貝發(fā)生損傷后，不僅影響自身基因的正?？截?，而且還影響到了其他基因的正常功能，最終導(dǎo)致了外周神經(jīng)病的發(fā)生,。
“研究者已經(jīng)解析出了對于髓鞘組裝來說非常重要的一段序列,，” NICHD（NIH的研究所）的負(fù)責(zé)人Duane Alexander介紹說,，“他們的發(fā)現(xiàn)將讓我們更為深入地探究髓鞘合成紊亂的病癥所在。”
相關(guān)英文原文：
Public release date: 16-Apr-2007
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Contact: Robert Bock
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NIH/National Institute of Child Health and Human Development
Researchers discover gene crucial for nerve cell insulation
Researchers funded by the National Institutes of Health have discovered how a defect in a single master gene disrupts the process by which several genes interact to create myelin, a fatty coating that covers nerve cells and increases the speed and reliability of their electrical signals.
The discovery has implications for understanding disorders of myelin production. These disorders can affect the peripheral nervous system梩he nerves outside the brain and spine. These disorders are known collectively as peripheral neuropathies. Peripheral neuropathies can result in numbness, weakness, pain, and impaired movement. They include one of the most common genetically inherited disorders, Charcot-Marie-Tooth disease, which causes progressive muscle weakening.
The myelin sheath that surrounds a nerve cell is analogous to the insulating material that coats an electrical cord or wire, keeping nerve impulses from dissipating, allowing them to travel farther and faster along the length of the nerve cell.
The researchers discovered how a defect in just one copy of the gene, known as early growth response gene 2 (EGR2) affects the normal copy of the gene as well as the functioning of other genes, resulting in peripheral neuropathy.
"The researchers have deciphered a key sequence essential to the assembly of myelin," said Duane Alexander, M.D., Director of the NICHD, the NIH institute that funded the study. "Their discovery will provide important insight into the origins of disorders affecting myelin production."
The study appears in the online version of Molecular and Cellular Biology.
John Svaren, Ph.D., an associate professor in the Department of Comparative Bioscience at the University of Wisconsin朚adison's School of Veterinary Medicine, worked with colleagues Scott E. LeBlanc, and Rebecca M. Ward, to conduct the study. Dr. Svaren is an affiliate of NICHD-funded mental retardation and developmental disabilities research center at the Waisman Center at the University of Wisconsin.
