title: Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.
abstract: Transthyretin (TTR) is a major amyloid fibril protein found in patients with familial amyloidotic polynuropathy (FAP) and senile systemic amyloidosis (SSA). Mainly synthesized in the live, TTR is transferred in the form of tetramer bound with thyroxine, retinol-binding protein (RBP) and lipoprotein in the blood. The aim of this study was to demonstrate the presence of amyloid substances in the blood by investigated the hemocoelom amyloid in different tissue sections from autopsies such as brain, kidney, heart and aorta arch tissue. Congo red staining was employed following by application of polarized light examination, to verify the presence of amyloid deposition in the tissues. Immunohistochemical staining was then performed to identify the specific type of amyloid deposition. Matrix-assisted laser desorption-ionization/time of flight mass spectrometry (MALDI-TOF/MS) was also used to analyze TTR mutation in FAP patients. All subjects were FAP ATTR Val30Met patients. In FAP patients, TTR amyloid deposition was found mainly in the tunica intima of the aortic arch. Interestingly, amyloid substance was found in the blood of FAP patient. Our results suggest that amyloid substance was present in the blood of FAP ATTR Val30Met patients.
authors.affiliation: Department of Neurology, Tianjin Medical University General Hospital Tianjin 300203, China.
authors.forename: Jinping
authors.initials: J
authors.lastname: Liu
authors.affiliation: School of Medical Laboratory, Tianjin Medical University, Tianjin Medical University General Hospital Tianjin 300203, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Lan
authors.affiliation: Department of Neurology, Tianjin Medical University General Hospital Tianjin 300203, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Zhao
authors.affiliation: School of Medical Laboratory, Tianjin Medical University, Tianjin Medical University General Hospital Tianjin 300203, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Zheng
authors.affiliation: School of Medical Laboratory, Tianjin Medical University, Tianjin Medical University General Hospital Tianjin 300203, China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Song
authors.affiliation: Department of Neurology, Tianjin Huanhu Hospital Tianjin, China.
authors.forename: Peilan
authors.initials: P
authors.lastname: Zhang
authors.affiliation: School of Medical Laboratory, Tianjin Medical University, Tianjin Medical University General Hospital Tianjin 300203, China.
authors.forename: Xuguo
authors.initials: X
authors.lastname: Sun
mesh_terms: D000328:Adult; D000682:Amyloid / Q000097:blood*; D028227:Amyloid Neuropathies, Familial / Q000097:blood* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D000682:Amyloid; D011228:Prealbumin
keywords: Amyloid; Congo red staining; familial amyloidtic polynuropathy; immunohistochemistry; transthyretin