FAP患者心脏组织淀粉样变形成机制分析  

Analysis of amyloid formation mechanism in heart tissues of FAP patients

作　　者：宋林[1] Mitsuharu Ueda 段红茹[1] 马玉株[1] 倪敏[1] 孙续国[1] Yukio Ando 

机构地区：[1]天津医科大学医学检验学院,300203 [2]日本熊本大学医学检验系

出　　处：《临床与实验病理学杂志》2011年第7期739-741,745,共4页Chinese Journal of Clinical and Experimental Pathology

基　　金：国家自然科学基金资助(30973157)

摘　　要：目的探讨转甲状腺素蛋白(transthyretin,TTR)在家族性淀粉样变多发性神经性损害(familial amyloidotic polyneuropathy,FAP)中的淀粉样变形成机制。方法 (1)利用质量分析装置法(matrix assisted laser desorption ionisation time-of-flight massspectrometry,MALDI-TOF/MS)测定TTR基因突变类型。(2)刚果红染色(Congo red,CR)结合偏振光显微镜检查鉴定心脏组织是否发生淀粉样变沉积。(3)免疫组化染色鉴定淀粉样变沉积蛋白类型。(4)组织形态学分析确定TTR淀粉样变沉积程度及其分布特点。结果 (1)MALDI-TOF/MS分析结果说明基因突变类型为ATTRVal30Met。(2)FAP患者心脏组织CR染色与偏振光显微镜检查确定淀粉样变沉积阳性,且心肌纤维间隙存有明显淀粉样变沉积。(3)免疫组化染色结果显示淀粉样变沉积前蛋白为TTR。结论 FAP ATTRVal30Met患者心肌间隙与疏松间质处,淀粉样变沉积明显,提示机体内TTR的载体运输或蛋白化学修饰等因素在淀粉样变形成机制中,可能具有重要作用。Purpose To investigate amyloid formation mechanism of mutated transthyretin(TTR) in familial amyloidotic polyneuropathy(FAP).Methods(1) Matrix assisted laser desorption ionisation time-of-flight mass spectrometry(MALDI-TOF/MS) was used to determine the gene mutation type of TTR.(2) Amyloid deposition in heart tissues was confirmed by Congo red stain and polarized light microscopy.(3) Amyloid preprotein type was determined by immunohistochemistry.(4) Amyloid deposition extent and morphological characteristics were analyzed with histological morphology analysis.Results(1) The gene mutation type was ATTRVal30Met as shown by results of serum TTR analysis with MALDI-TOF/MS.(2) Amyloid was found in small blood vessels and myocardial interstitial in heart tissues,as confirmed by Congo red stain and apple green birefringence under polarized light microscopy.(3) The amyloid preprotein was demonstrated to be TTR by immunohistochemistry.(4) Congo red stain extent in loose tissues between vascular walls and myocardial fibers was significantly higher than that of other parts of heart tissues.Conclusions Amyloid deposition is significant in myocardial interstitial and loose connective tissues of FAP ATTRVal30Met patients,suggesting that factors such as carrier transportation and chemical modification may play important roles in TTR amyloidosis.

关 键 词：心肌淀粉样变 家族性淀粉样变多发性神经损害 刚果红 转甲状腺素蛋白 

分 类 号：R364[医药卫生—病理学]