芬兰遗传性淀粉样变性中凝溶胶蛋白基因的突变
Mutation in gelsolin gene in Finnish hereditary amyloidosis.
作者信息
Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B
机构信息
Department of Pathology, New York University Medical Center, New York 10016.
出版信息
J Exp Med. 1990 Dec 1;172(6):1865-7. doi: 10.1084/jem.172.6.1865.
Abstract
Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy. The novel amyloid fibril protein found in these patients is a degradation fragment of gelsolin, an actin-binding protein. We found a mutation (adenine for guanine) at nucleotide 654 of the gelsolin gene in genomic DNA isolated from five FAF patients. This site is polymorphic since the normal allele was also present in all the patients tested. This mutation was not found in two unaffected family members and 11 normal controls. The A for G transition causes an amino acid substitution (asparagine for aspartic acid) that was found at position 15 of the amyloid protein. The mutation and consequent amino acid substitution may lead to the development of FAF.
摘要
芬兰型家族性淀粉样变性（FAF）是家族性淀粉样多神经病的常染色体显性形式。在这些患者中发现的新型淀粉样纤维蛋白是凝溶胶蛋白（一种肌动蛋白结合蛋白）的降解片段。我们在从5名FAF患者分离的基因组DNA中，发现凝溶胶蛋白基因第654位核苷酸处有一个突变（鸟嘌呤突变为腺嘌呤）。该位点具有多态性，因为在所有检测的患者中也存在正常等位基因。在两名未受影响的家庭成员和11名正常对照中未发现此突变。由A到G的转变导致在淀粉样蛋白第15位出现氨基酸替代（天冬氨酸被天冬酰胺替代）。该突变及随之而来的氨基酸替代可能导致FAF的发生。
相似文献
1
Mutation in gelsolin gene in Finnish hereditary amyloidosis.芬兰遗传性淀粉样变性中凝溶胶蛋白基因的突变
J Exp Med. 1990 Dec 1;172(6):1865-7. doi: 10.1084/jem.172.6.1865.
2
Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.芬兰型家族性淀粉样变性中凝溶胶蛋白基因突变——第187密码子——：DNA诊断检测法
Am J Med Genet. 1992 Feb 1;42(3):357-9. doi: 10.1002/ajmg.1320420321.
3
4
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.芬兰遗传性淀粉样变性是由凝溶胶蛋白基因中的单个核苷酸替换引起的。
FEBS Lett. 1990 Dec 10;276(1-2):75-7. doi: 10.1016/0014-5793(90)80510-p.
5
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.芬兰型家族性淀粉样变性：G654——芬兰家族及一个无亲缘关系的美国家族中凝溶胶蛋白基因的一种突变
Genomics. 1992 Jul;13(3):898-901. doi: 10.1016/0888-7543(92)90182-r.
6
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.芬兰型家族性淀粉样变性中的凝溶胶蛋白变体（Asn-187）。
Biochem J. 1990 Dec 15;272(3):827-30. doi: 10.1042/bj2720827.
7
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.由天冬酰胺或酪氨酸取代第187位残基上的天冬氨酸引起的凝溶胶蛋白源性家族性淀粉样变性。
Nat Genet. 1992 Oct;2(2):157-60. doi: 10.1038/ng1092-157.
8
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type.芬兰型家族性淀粉样变性特异性循环65K凝溶胶蛋白变体的证实。
Biochem Biophys Res Commun. 1993 Feb 26;191(1):41-4. doi: 10.1006/bbrc.1993.1181.
9
Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.凝溶胶蛋白相关淀粉样变性。芬兰遗传性淀粉样变性中淀粉样蛋白被鉴定为变异型凝溶胶蛋白的一个片段。
J Clin Invest. 1991 Apr;87(4):1195-9. doi: 10.1172/JCI115118.
10
Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.固相微测序检测显示，在所有患有芬兰型家族性淀粉样变性的受累个体中，凝溶胶蛋白存在Asp187----Asn（G654----A）突变。
Genomics. 1992 May;13(1):237-9. doi: 10.1016/0888-7543(92)90235-k.
引用本文的文献
1
Distinct molecular features of FLNC mutations, associated with different clinical phenotypes.与不同临床表型相关的FLNC突变的独特分子特征。
Cytoskeleton (Hoboken). 2025 Mar;82(3):158-174. doi: 10.1002/cm.21922. Epub 2024 Sep 24.
2
Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis.韩国载脂蛋白 E 淀粉样变性患者的临床特征和脑 MRI 表现。
Yonsei Med J. 2021 May;62(5):431-438. doi: 10.3349/ymj.2021.62.5.431.
3
4
Deep Learning Algorithms for Corneal Amyloid Deposition Quantitation in Familial Amyloidosis.用于家族性淀粉样变性中角膜淀粉样沉积定量的深度学习算法
Ocul Oncol Pathol. 2020 Jan;6(1):58-65. doi: 10.1159/000500896. Epub 2019 Jul 15.
5
Natural and pathogenic protein sequence variation affecting prion-like domains within and across human proteomes.影响人类蛋白质组内和跨蛋白质组朊样结构域的天然和致病性蛋白质序列变异。
BMC Genomics. 2020 Jan 8;21(1):23. doi: 10.1186/s12864-019-6425-3.
6
Vascular Cognitive Impairment.血管性认知障碍
Continuum (Minneap Minn). 2019 Feb;25(1):147-164. doi: 10.1212/CON.0000000000000684.
7
Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.62 个芬兰家族性淀粉样变性伴肌球蛋白轻链基因突变的共同来源。
Eur J Hum Genet. 2018 Jan;26(1):117-123. doi: 10.1038/s41431-017-0026-x. Epub 2017 Nov 22.
8
Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein.与纤维蛋白原Aα链蛋白5种新变体相关的肾淀粉样变性
Kidney Int Rep. 2016 Nov 19;2(3):461-469. doi: 10.1016/j.ekir.2016.11.005. eCollection 2017 May.
9
Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.凝胶蛋白致病性 Gly167Arg 突变促进蛋白结构域交换二聚体的形成。
Hum Mol Genet. 2018 Jan 1;27(1):53-65. doi: 10.1093/hmg/ddx383.
10
The First Argentinian Family with Familial Amyloidosis of the Finnish Type.首个患有芬兰型家族性淀粉样变性的阿根廷家族。
Case Rep Ophthalmol. 2017 Aug 31;8(2):446-451. doi: 10.1159/000479729. eCollection 2017 May-Aug.
本文引用的文献
1
Three forms of dominant amyloid neuropathy.三种显性淀粉样变神经病形式。
Johns Hopkins Med J. 1981 Dec;149(6):239-47.
2
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).与家族性系统性淀粉样变性相关的格子状角膜营养不良（梅雷托亚综合征）。
Ophthalmology. 1983 Dec;90(12):1512-7. doi: 10.1016/s0161-6420(83)34369-4.
3
Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.瑞典遗传性多神经病中淀粉样前清蛋白及其血浆前体的一级结构
Proc Natl Acad Sci U S A. 1984 Feb;81(3):694-8. doi: 10.1073/pnas.81.3.694.
4
Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.利用单链噬菌体克隆辅助快速DNA测序。
J Mol Biol. 1980 Oct 25;143(2):161-78. doi: 10.1016/0022-2836(80)90196-5.
5
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.伴有角膜格子状营养不良和颅神经病变的家族性淀粉样变性的遗传学方面
Clin Genet. 1973;4(3):173-185. doi: 10.1111/j.1399-0004.1973.tb01140.x.
6
7
[An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy].一种由周围性多发性神经病、皮肤改变和格子状角膜营养不良组成的遗传性综合征。
Klin Monbl Augenheilkd. 1971 Nov;159(5):618-23.
8
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.伴有颅神经病变和角膜格子状营养不良的家族性淀粉样变性
Neurology. 1986 Mar;36(3):432-5. doi: 10.1212/wnl.36.3.432.
9
Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain.血浆和细胞质凝溶胶蛋白由单一基因编码，并含有一个重复的肌动蛋白结合结构域。
Nature. 1986;323(6087):455-8. doi: 10.1038/323455a0.
10
Nucleotide sequence of pig plasma gelsolin. Comparison of protein sequence with human gelsolin and other actin-severing proteins shows strong homologies and evidence for large internal repeats.猪血浆凝溶胶蛋白的核苷酸序列。蛋白质序列与人凝溶胶蛋白及其他肌动蛋白切断蛋白的比较显示出高度同源性以及存在大量内部重复序列的证据。
J Mol Biol. 1988 Oct 20;203(4):1127-33. doi: 10.1016/0022-2836(88)90132-5.
Zotero 插件