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Objective To analyze and conclude the clinlcal and histopathological features of a proband with familial amyloidotic polyneuropathy (FAP) by postmortem examination and gene sequencing of DNA from peripheral blood to provide reference in further understanding the disease.Methods Morphological study was constructed by hematoxylin and eosin (HE) staining, congo red staining and birefringence with thioflavin under microscope, and by immunolabeling with polyclonal rabbit antibodies to transthyretin under polarized microscope. Results Genetic findings of transthyretin (TTR) gene revealed a T to C transition in codon 30 causing the mutation TTR Ala30; this proband belonged TTR Val30Met FAP type.Autopsy showed heavy amyloid deposition in the peripheral nerves,liver,testes,thyroid,pancreas and muscles.The spleen showed only slight deposition,and none was observed in the central nervous system. Conclusion Distinction is noted on pathological changes of Chinese FAP patient with TTR Val30Ala and other FAP patient with typical TTR Val30Met.
RESUMEN
<p><b>OBJECTIVE</b>To investigate the effect of S-adenosyl-L-methionine (SAMe) on vascular smooth muscle cells (VSMCs) proliferation and migration and neointima formation in rat carotid artery balloon injury model.</p><p><b>METHODS</b>Rat VSMCs were divided into control group, TNF-α (10 ng/ml) group, SAMe (0.2 mmol/L) group and TNF-α + SAMe group. VSMC migration distance and proliferation were examined by cell scrape tests and MTT method. NF-κB activity was analyzed by EMSA. PDGF mRNA expression was detected by Northern blot. SD rat were divided into control group, carotid balloon injury group treated with saline or SAMe (15 mg×kg(-1)×d(-1) for 14 d), then blood vessel proliferation was observed histologically in rat carotid artery.</p><p><b>RESULTS</b>(1) In vitro, the VSMCs migration distance, absorbance at 490 nm, PDGF mRNA expression, NF-κB activity were all increased in TNF-α group compared to the control group (P < 0.01), and decreased in TNF-α + SAMe group compared to the TNF-α group (P < 0.01). (2) In the balloon injury in vivo models, the intima area of saline group and SAMe group was increased compared to the control group, while the lumen area was larger and the intima area was smaller in the SAMe group than in the saline group (all P < 0.05).</p><p><b>CONCLUSION</b>SAMe could reduce TNF-α induced VSMC proliferation and migration possibly through inhibiting NF-κB activity and downregulating PDGF gene expression.</p>