열성경련 플러스에서 SCN1B 유전자의 돌연변이

노영래(Young-Nae Roh),신미영(Mi-Young Shin),김영훈(Young-Hoon Kim),고영선(Young Sun Ko),김진모(Jinmo Kim),김홍태(Hongtae Kim),김흥동(Heung Dong Kim),황경태(Kyung-Tai Whang),이권행(Kweon-Haeng Lee) 대한소아신경학회 2002 대한소아신경학회지 Vol.10 No.2

목 적 : 열성경련은 6세 이하 소아의 2-5%에서 경험하는 비교적 흔한 질환이다. 열성경련을 경험한 소아의 일부는 나중에 비열성경련성질환과 간질로 발전한다. 열성경련플러스(generalized epilepsy with febrile seizure plus, GEFS+)는 열성경련과 다양한 정도의 전신발작 등 이질적은 표현형을 가진 중요한 유전학적간질증후군이다. GEFS+ 관련 유전자는 염색체 19q13.1에 존재하며, voltage-gated sodium channel β1 subunit(SCN1B) 유전자 exon 3내 387 C→G DNA돌연변이와 관련되었다고 보고되었다. 저자들은 단순 열성경련 및 GEFS+로 진단받은 환아를 대상으로 SCN1B 유전자의 돌연변이 여부를 알아보기 위하여 본 연구를 시행하였다. 방 법 : GEFS+로 진단받은 환아 18명과 단순열성경련 환아 13명 등 가족력이 있는 열성경련환아 31명을 대상으로 하여 SCN1B 유전자의 돌연변이를 선별하였다. 5개의 SCN1B exon을 증폭하기 위한 primer쌍은 Neurology Web 사이트에 올려진 Wallace등의 자료에 얻었다. 모든 exon을 PCR로 증폭하였고 증폭된 유전자는 단계적으로 염기서열을 분석하였으며 단일가닥구조다형성(Single-Stranded DNA Conformational Polymor-phism, SSCP) 분석을 8% polyacrylamide gel을 사용하여 수행하였다. 결 과 ; 연령 분포를 보면 10세 미만 24명(77%), 10세에서 14세 미만 3명(10%), 14세 이상 4명(13%)이었다. 남녀비는 0.55였다. GEFS+ 환아의 간질발작 양상으로는 전신 강직-간대발작 14(88%), 근간대발작 1명(6%), 탈력발작 1명(6%)이었다. 뇌파소견ㄴ은 정상 11명(78%), generalized spike wave 5명(28%), diffuse slowing 2명(11%)이었다. 염기서열분석고 SSPC 분석을 통한 본 연구에서는 GEFS+군 2례에서 SCN1B 유전자 exon 3내 DNA 돌연변이를 관찰할 수 있었다. 2례에서 모두 SCN1B 유전자 exon 3내 224 G와 225 C 사이에 염기 C가 추가되어 있는 돌연변이였다. 돌연변이를 나타낸 2례는 다른 가족에서 발생한 경우이다. 결 론 : 저자들은 가족이 다른 두명의 GEFS+ 환아에서 SCN1B 유전자의 새로운 돌연변이를 확인할 수 있었다. Purpose : Febrile seizures affect 2-5% of all children younger than 6 years olf. A small proportion of children with febrile seizures later develop epilepsy. Generalized epilepsy with febrile seizures plus(GEFS+) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures(FS) and generalized epilepsies of variable severity. It was reported that the gene locus for GEFS+ exists in the chromosome 19q13.1, and has relationship with a 387 C→G mutation in the voltage-gated sodium channel β1 subunit(SCN1B) gene. This study is to determine whether there are mutations in children with GEFS+ and FS. Methods : Eighteen GEFS+ and thirteen FS patients were screened for mutations in the sodium channel beta-subunits SCN1B. The primer pairs used to amplify the exons of SCN1B are given in the supplementary data on the Neurology web site. All exons were amplified by PCR and PCR products were subsequently sequenced. Single-stranded conformation polymorphism(SSCP) was carried out using 8% polyacrylamide gel. Results : Twenty four patients(77%) were younger than 10 years old, three(10%) were between 10 and 14 years old, and four(13%) older than 14 years old. The ratio of female to male was 0.55:1.0 In phenotypes of GEFS+, fourteen patients(88%) had generalized tonic-clonic seizures, one patient(6%) myoclonic seizures and one patient(6%) atonic seizures. In EEG findings of GEFS+, eleven(78%) patients had normal findings, five(28%) patients generalized spike waves and two patients(11%) diffuse slowings. In sequencing and SSCP of PCR products, we could observe added C mutations between 224G and 225C of exon 3 in two unrelated patients with GEFS+. Conclusion : We proved the existence of a new mutation of SCN1B in two unrelated patients with GEFS+.

흰쥐 말초신경에서 성체 Schwann 세포의 성공적인 배양

신미영(Mi-Young Shin),노영래(Young-Nae Roh),우지현(Ji Hyun Woo),김영훈(Young-Hoon Kim),황경태(Kyung-Tai Whang),유도성, 조경석(Kyung Suck Cho),김달수(Dal Soo Kim) 대한소아신경학회 2002 대한소아신경학회지 Vol.10 No.1

목적: 성체포유동물의 말초신경에서 유래한 Schwann 세포는 결체조직이 많고 잘 분화된 세포이기 때문에 성공적인 배양이 어렵고 증식이 잘 되지 않는 것으로 알려져 있다. 그러나 신경손상 등으로 조건화를 하면 성숙말초신경에서도 Schwann 세포의 성공적인 배양이 가능한 것으로 최근에 알려져 있다. 이에 저자들은 국내 최초로 흰쥐의 좌골신경을 이용하여 성숙말초신경에서 조건화된 손상을 줌으로서 Schwann 세포를 배양하는데 성공하였으며 수율도 높일 수 있었다. 방법: 250-300 g의 Sprague-Dawley 수컷 흰쥐를 사용하였으며 배양 2주 전에 좌측 좌골신경을 신경손상을 일으켜 조건화한 뒤 키웠다가 다시 좌골신경에서 20 mm 신경조각을 적출하여 RPMI-1640 배양액에 2주간 배양하였다. Schwann 세포의 확인은 s-100항체를 이용한 면역염색법으로 확인하였다. 결과: 1)조건화된 손상 후 평판에서 배양한지 48시간부터는 양극 및 삼극세포를 발견할 수 있었으며 세포수는 12일까지 지속적으로 증가하였다. 2)3-4시간의 소화시간으로도 분리한 세포의 숫자는 줄지 않고 붙은 세포의 수를 증가시킬 수 있었다. 3)부착된 Schwann 세포는 배양 후 12-14일에 최고로 많이 관찰되었다. 4)부착된 Schwann 세포의 대부분은 전형적인 원형의 세포체를 가지고 있으며 뚜렷한 핵과 양극 혹은 삼극뻗음이 있어서 전체적으로는 방추형의 모양을 하였다. 결론: 이러한 결과로 볼 때 조건화된 손상이 말초신경에서 성체 Schwann 세포를 성공적으로 분리하여 배양할 수 있게 한다는 것을 알 수 있었다. PURPOSE: Schwann cells are difficult to isolate from adult mammalian peripheral nerves because of the abundant connective tissue and the highly differentiated state of the cells, particularly those involved in the formation of myelin. It has been shown that in vivo, both neurons and Schwann cells are conditioned by a nerve lesion, speeding up the Schwann cell proliferation and the neuronal regeneration. In this study with adult rat peripheral nerves, we report that a conditioning lesion increases Schwann cells and of cells which successfully attach to a tissue culture striatum. METHODS: The study was done with Sprague-Dawley male rats(250-300 g). Their left sciatic nerves were exposed, severed at the sciatic notch and deflected. After 14 days, with 20 mm segments the nerves were excised from the distal stump of the conditioned sciatic nerves. Schwann cells were cultured in RPMI-1640 media. The identity of the cells was verified with antibody staining using S-100. RESULTS: The lesion evoked a progressive and significant increase in the number of cells obtained as early as 48 hr of the plating, until day 12. Decreasing the duration of enzyme digestion to 3 and 4 hrs markely increased the number of attached Schwann cells. The peak numbers of attached Schwann cells was observed between day 12 and day 14 of the plating. Most attached Schwann cells had typical oval-shaped cell bodies, with prominent nuclei and bipolar cell extensions, resulting in overall spindle shapes. CONCLUSION: Our findings indicate that a conditioning lesion enables us to isolate and culture adult Schwann cells successfully from the peripheral nerves of rats.

주제별 논단 : 자본시장통합법의 쟁점과 과제 ; 자본시장통합법상 금융투자회사의 지급결제서비스 제공과 관련한 주요 쟁점

김유철 ( Yu Chul Kim ),노영래 ( Young Nae Roh ) 한국금융법학회 2006 金融法硏究 Vol.3 No.1

The Financial Investment Services and Capital Market Act is aimed at promoting financial innovation and competition through advanced regulatory reform to eventually form a competitive capital market. It also contains an article allowing financial investment firms to provide payment and settlement services such as settlement, remittance and deposit and withdrawal on demand through their customer accounts. Specifically, this sets up a legal basis for the firms to join the retail payment systems through the firms`representative financial institution and an agency bank. Now securities firms provide their customers with payment services of a similar level to those banks provide to their own customers by entering into contracts with banks about virtual banking account. But this method has involved not only some restrictions on available service hours and coverage but also conflicts over service charges between parties to the contract. In order to reduce those inconvenience, the draft legislation would allow financial investment firms to participate in retail payment systems. But the proposal poses a number of problems. Above all, it would undermine the current principle of preventing infringement of other financial institutions`turfs among banks, securities firms and insurance firms because it would actually enable financial investment firms to handle demand deposits. Securities firms`direct provision of payment services to their customers is not expected to achieve its desired goals such as fostering competitiveness of financial investment firms, reducing the service charges levied on financial investment firms and attracting inflows of cash balances held by household, while it might be confidently expected to increase the service charges imposed on customers. In addition, it will cost Korea Securities Finance Corporation(KSFC) and individual securities firms a large amount of money to develop and maintain new electronic devices and in-house systems. Unnecessary social costs will occur as a result of the rising settlement risk to the retail payment systems. Accordingly, the implications suggested by this paper are as follows. First, thorough reviews of the principles which restrict corporate firms`holding of bank stocks above a certain ceiling and prevent infringement of other financial institutions`turfs among banks, securities firms and insurance firms should be conducted before discussing the issue officially. Second, decisions should be made considering comprehensively such factors as the risk management system and the settlement practices of financial investment firms because it is hard to say whether having financial investment firms deal with payment services is directly related to improving competitiveness.

영업점 관리자 교체와 예산 톱니현상

이상철(Sang Cheol Lee),노영래(Young Nae Roh),이윤근(Yunkeun Lee) 한국경영학회 2020 經營學硏究 Vol.49 No.3

Duplication 9p Syndrome 1례

이미경,노영래,김영훈,백청순,신미경,이진,장필상,김진택,이권행,황경태 대한소아과학회 2002 小兒科 Vol.45 No.9