1995 Fiscal Year Annual Research Report

ミエリン形成障害を主病変とする神経疾患の分子生物学的研究

Research Project

Project/Area Number	07670720
Research Category	Grant-in-Aid for General Scientific Research (C)
Research Institution	Kagoshima University
Principal Investigator	中川正法鹿児島大学, 医学部・附属病院, 講師 (50198040)
Co-Investigator(Kenkyū-buntansha)	梅原藤雄鹿児島大学, 医学部・附属病院, 助手 (20271140) 有村公良鹿児島大学, 医学部, 助教授 (20159510)
Keywords	中枢性ミエリン / 末梢神経障害 / 優性遺伝 / 劣性遺伝 / 連鎖解析 / PLP / P_0 / PMP22
Research Abstract	本年度の研究目的 (1)ミエリン形成障害を示す19家系90例(罹患者45例、非罹患者45例)の末梢血よりDNAを抽出し、マイクロサテライト多型マーカーを用いて、遺伝子マッピングを行う。 (2)PLP、P_0、PMP22の遺伝子との連鎖について検討する。連鎖は認められない場合は、全染色体を対象に連鎖解析を行う。結果 PLP、P_0、PMP22の3遺伝子と連鎖していない末梢神経障害を示す大家系例について、全染色体を対象としてマイクロサテライト多型マーカーを利用した連鎖解析を行い、疾患に連鎖する遺伝子のマッピングに成功し、平成7年度の研究計画を達成することが出来た。今後、この遺伝子がマッピングされる領域をさらに絞り込み、positional candidate methodなどの方法を用いて、原因遺伝子のクローニングを目指したい。また、他の家族性の末梢または中枢ミエリン障害を示す例についても、遺伝子連鎖解析を進めている。現時点で解明できる範囲で検討を行った症例については、個別に報告した。

Research Products

(8 results)

All Other

All Publications (8 results)

[Publications] Nakagawa M,Kaminishi Y,Isashiki Y,Yamada H,et al.: "Familial mitochondrial encephalomyopathy with deaf-mutism,ophthalmoplegia and leukodystrophy." Acta Neurol Scand. 92. 102-108 (1995)
[Publications] Umehara F,Kiwaki T,Yoshikawa H,Nishimura T,et al.: "Deletion in chromosome 17p11.2 including the peripheral myelin protein-22(PMP-22) gene in hereditary neuropathy with liability to pressure palsies" J Neurol Sci. 133. 173-176 (1995)
[Publications] Nakamura A,Izumi K,Umehara F,Kuiyama M,et al.: "Familial spastic paraplegia with mental impairment and thin corpus callosum" J Neurol Sci. 131. 35-42 (1995)
[Publications] Anan R,Nakagawa M,Miyata M,Higuchi I,et al.: "Cardiac involvement in mitochondrial diseases:a study on 17 patients withdocumented mitochondrial DNA defects." Circulation. 91. 955-961 (1995)
[Publications] Yamada H,Nakagawa M,Higuchi I,Ohkubo R,et al.: "Type II muscle fibers are stained by anti-Fas antibody." J Neurol Sci. 134. 115-118 (1995)
[Publications] Nakagawa M,Izumo S,Ijichi S,Kubota H,et al.: "HTLV-I-associated myelopathy:Analysis of 213 patients based on clinical features and laboratory findings." Neuro Virology. 1. 50-61 (1995)
[Publications] Matsuyama W,Kuriyama M,Nakagawa M,Kanazawa H,et al.: "Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency." J Neurol Sci. (in press).
[Publications] Nakahawa M,Nakahara K,Maruyama Y,Kawabata M,et al.: "Therapeutic trials in 200 patients with HTLV-I-associated myelopathy/tropical spastic" Neuro Virology. (in press).

1995 Fiscal Year Annual Research Report

ミエリン形成障害を主病変とする神経疾患の分子生物学的研究

Principal Investigator

中川 正法 鹿児島大学, 医学部・附属病院, 講師 (50198040)

Research Products

[Publications] Nakagawa M,Kaminishi Y,Isashiki Y,Yamada H,et al.: "Familial mitochondrial encephalomyopathy with deaf-mutism,ophthalmoplegia and leukodystrophy." Acta Neurol Scand. 92. 102-108 (1995)

[Publications] Umehara F,Kiwaki T,Yoshikawa H,Nishimura T,et al.: "Deletion in chromosome 17p11.2 including the peripheral myelin protein-22(PMP-22) gene in hereditary neuropathy with liability to pressure palsies" J Neurol Sci. 133. 173-176 (1995)

[Publications] Nakamura A,Izumi K,Umehara F,Kuiyama M,et al.: "Familial spastic paraplegia with mental impairment and thin corpus callosum" J Neurol Sci. 131. 35-42 (1995)

[Publications] Anan R,Nakagawa M,Miyata M,Higuchi I,et al.: "Cardiac involvement in mitochondrial diseases:a study on 17 patients withdocumented mitochondrial DNA defects." Circulation. 91. 955-961 (1995)

[Publications] Yamada H,Nakagawa M,Higuchi I,Ohkubo R,et al.: "Type II muscle fibers are stained by anti-Fas antibody." J Neurol Sci. 134. 115-118 (1995)

[Publications] Nakagawa M,Izumo S,Ijichi S,Kubota H,et al.: "HTLV-I-associated myelopathy:Analysis of 213 patients based on clinical features and laboratory findings." Neuro Virology. 1. 50-61 (1995)

[Publications] Matsuyama W,Kuriyama M,Nakagawa M,Kanazawa H,et al.: "Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency." J Neurol Sci. (in press).

[Publications] Nakahawa M,Nakahara K,Maruyama Y,Kawabata M,et al.: "Therapeutic trials in 200 patients with HTLV-I-associated myelopathy/tropical spastic" Neuro Virology. (in press).

中川正法鹿児島大学, 医学部・附属病院, 講師 (50198040)