GENETIC ABNORMALITIES AND PATHOGENESIS OF FAMILIAL AMYLOIDOTIC POLYNEUROPATHY

被引:30
作者
MURAKAMI, T [1 ]
UCHINO, M [1 ]
ANDO, M [1 ]
机构
[1] KUMAMOTO UNIV, SCH MED, DEPT INTERNAL MED 1, KUMAMOTO 860, JAPAN
关键词
AMYLOID; ANIMAL MODEL; FAMILIAL AMYLOIDOTIC POLYNEUROPATHY; TRANSGENIC MOUSE; TRANSTHYRETIN;
D O I
10.1111/j.1440-1827.1995.tb03373.x
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Familial amyloidotic polyneuropathy (FAP) is an autosomal inherited disease, characterized by extracellular amyloid deposits and by peripheral neuropathy. Amyloid fibrils derived from most types of FAP consist of variant transthyretin (TTR) with single amino acid substitutions, and methionine 30 TTR is the most common variant TTR. TTR is mainly produced in the liver and the choroid plexus. Biochemical and molecular biological techniques have been revealing the amyloidogenicity of variant TTR in vitro and in vivo using the transgenic mouse as a model. It will be important for the development of effective therapy to find out the factors, other than variant TTR, which affect amyloid deposition and define the tissue specificity of amyloid.
引用
收藏
页码:1 / 9
页数:9
相关论文
共 61 条
  • [51] A NOVEL VARIANT OF TRANSTHYRETIN (TYR114 TO CYS) DEDUCED FROM THE NUCLEOTIDE-SEQUENCES OF GENE FRAGMENTS FROM FAMILIAL AMYLOIDOTIC POLYNEUROPATHY IN JAPANESE SIBLING CASES
    UENO, S
    UEMICHI, T
    YORIFUJI, S
    TARUI, S
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 169 (01) : 143 - 147
  • [52] FAMILIAL AMYLOID POLYNEUROPATHY ASSOCIATED WITH THE TRANSTHYRETIN CYS114 GENE IN A JAPANESE KINDRED
    UENO, S
    FUJIMURA, H
    YORIFUJI, S
    NAKAMURA, Y
    TAKAHASHI, M
    TARUI, S
    YANAGIHARA, T
    [J]. BRAIN, 1992, 115 : 1275 - 1289
  • [53] 2 NOVEL VARIANTS OF TRANSTHYRETIN IDENTIFIED IN JAPANESE CASES WITH FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - TRANSTHYRETIN (GLU42 TO GLY) AND TRANSTHYRETIN (SER50 TO ARG)
    UENO, S
    UEMICHI, T
    TAKAHASHI, N
    SOGA, F
    YORIFUJI, S
    TARUI, S
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 169 (03) : 1117 - 1121
  • [54] STRUCTURAL COMPARISONS BETWEEN MOUSE AND HUMAN PREALBUMIN
    WAKASUGI, S
    MAEDA, S
    SHIMADA, K
    NAKASHIMA, H
    MIGITA, S
    [J]. JOURNAL OF BIOCHEMISTRY, 1985, 98 (06) : 1707 - 1714
  • [55] STRUCTURE AND EXPRESSION OF THE MOUSE PREALBUMIN GENE
    WAKASUGI, S
    MAEDA, S
    SHIMADA, K
    [J]. JOURNAL OF BIOCHEMISTRY, 1986, 100 (01) : 49 - 58
  • [56] LOCALIZATION OF THE HUMAN PREALBUMIN GENE TO CHROMOSOME-18
    WALLACE, MR
    NAYLOR, SL
    KLUVEBECKERMAN, B
    LONG, GL
    MCDONALD, L
    SHOWS, TB
    BENSON, MD
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1985, 129 (03) : 753 - 758
  • [57] FIBRIL IN SENILE SYSTEMIC AMYLOIDOSIS IS DERIVED FROM NORMAL TRANSTHYRETIN
    WESTERMARK, P
    SLETTEN, K
    JOHANSSON, B
    CORNWELL, GG
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (07) : 2843 - 2845
  • [58] FAMILIAL AMYLOIDOTIC POLYNEUROPATHY WITH LATE-ONSET AND WELL-PRESERVED AUTONOMIC FUNCTION - A JAPANESE KINDRED WITH NOVEL MUTANT TRANSTHYRETIN (ALA(97) TO GLY)
    YASUDA, T
    SOBUE, G
    DOYU, M
    NAKAZATO, M
    SHIOMI, K
    YANAGI, T
    MITSUMA, T
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 121 (01) : 97 - 102
  • [59] YI S, 1991, AM J PATHOL, V138, P403
  • [60] YOSHINAGA T, 1992, NEUROLOGY, V42, P2045