1997 Fiscal Year Final Research Report Summary
STUDY OF NEUROFIBROMATOSIS 2 GENE
| Project/Area Number |
07670968
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | JIKEI UNIVERSITY SCHOOL OF MEDICINE |
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Principal Investigator |
HONDA Mariko THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE DERMATOLOGY ASSISTANT PROFESSOR, 医学部, 講師 (20100919)
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| Co-Investigator(Kenkyū-buntansha) |
ITAMI Satomi THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE DERMATOLOGY ASSISTANT, 医学部, 助手 (50232385)
SAWADA Shunichi THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE DERMATOLOGY ASSISTANT PROFESSOR, 医学部, 講師 (50187291)
NIMURA Michihito THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE DERMATOLOGY PROFESSOR, 医学部, 教授 (00010190)
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| Project Period (FY) |
1995 – 1997
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| Keywords | NEUROFIBROMATOSIS 2 / PCR-SSCP / PROTEIN TRUNCATION TEST |
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| Research Abstract |
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the occurrence of bilateral acoustic neuromas, as well as meningiomas and schwannomas. The gene locus for NF2 resider on chromosome 22q12 and has been cloned recently. The NF2 gene-encoded protein, named merlin or schwannomin, may function as a molecular linkage connecting cytoskeleton and plasma membrane. Merlin is thought to play a crucial role as a tumor suppressor not only in hereditary NF2-related fumors but also in sporadic tumors such as schwannomas, meningiomas. Neurilemmomatosis is characterized by multiple cutaneous and spinal schwannomas without other signs of NF1 or NF2. We reported that the neurilemmomatosis locus lies within the NF2 region and that these diseases might be ldentical. The term NF2 has been used to describe two clinical subtypes, representing the severe Wishart and mild Gardner. Thus, neurilemmomatosis is Gardner.
In this study we analyzed the peripheral leukocytes and tissue from cutaneous neurilemmomas from patients with neurilemmomatosis using PCR-SSCP of the entire coding region of the NF2 gene and the protein truncation test (PTT). We detected the germ-line mutations in five of thirteen patient (38.5%) and mutations in three of four tumors (75%). We recommend this PTT as a firstpass mutation screen.
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