ABSTRACT
<p><b>OBJECTIVE</b>Familial left ventricular noncompaction(LVNC) is quite rare. We screened for the presence of LVNC and related clinical characteristics in a 5-generation Chinese family.</p><p><b>METHODS</b>Comprehensive medical history was obtained from 40 members in a 5-generation Chinese family. Systemic clinical investigations including echocardiography (UCG), routine and ambulatory electrocardiogram (ECG), X-rays were performed in 33 family members. Cardiovascular magnetic resonance image (MRI) was carried out in 2 family members.</p><p><b>RESULTS</b>Sudden cardiac death (including 1 occurred while following-up) was reported in 7 family members (17.5%, 7/40). LVNC was diagnosed in 10 out of the 33 family members (30.3%) and heart enlargement was evidenced in 3, heart failure in 2, complete left branch conductive block in 3, serious sick sinus syndrome (SSS) treated with permanent pacemaker implantation in 1 and paroxysmal supraventricular tachycardia treated with radiofrequency ablation procedure in 1 out of these 10 LVNC patients. Primary pedigree analysis revealed that offspring from female patients were at the highest risk to be affected by LVNC (15/18, 83.3%) while LVNC was absent in offspring of male LVNC patients (0/8). Moreover, clinical heart failure symptoms and arrhythmias were more severe in female LVNC patients than in male LVNC patients.</p><p><b>CONCLUSION</b>Primary familial investigation reveals the matrilineal inheritance of familial LVNC in this 5-generation Chinese family, further investigations are warranted to explore the potential mutations in the mitochondrial genome responsible for LVNC in this family.</p>
Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Asian People , Genetics , Cardiomyopathies , Epidemiology , Genetics , Death, Sudden, Cardiac , Mutation , Pedigree , Ventricular Dysfunction, LeftABSTRACT
<p><b>OBJECTIVE</b>To investigate the effect of telomerase reverse transcriptase (TERT) to the proliferation of 5-HT induced pulmonary artery smooth muscle cells (PASMCs).</p><p><b>METHODS</b>The PASMCs proliferation experiment was performed to detect the effort on PASMCs of 5-HT or ASODN TERT (antisense oligoribonucleotides TERT designed according to the rat TERT mRNA sequence of gene bank). The immunohistochemistry staining experiment and the in situ hybridization experiment were to detect the TERT protein and mRNA expression with 5-HT or ASODN TERT. FITC marked ASODN TERT experiment was done to research the distribution of ASODN TERT in PASMCs.</p><p><b>RESULTS</b>5-HT promoted PASMCs proliferation in a dose-dependent manner (10(-9) - 10(-5) mol/L). 5-HT also significantly increased TERT expression at protein and mRNA levels as shown by immunohistochemistry staining and the in situ hybridization studies. This effect could be blocked by ASODN TERT in a time and dose-dependent manner.</p><p><b>CONCLUSIONS</b>Our experiments show TERT is one of the key factors in the procession of 5-HT induced PASMCs proliferation. ASODN TERT might be a potential therapy agent for pulmonary hypertension.</p>
Subject(s)
Animals , Rats , Cell Proliferation , Cells, Cultured , Muscle, Smooth, Vascular , Cell Biology , Myocytes, Smooth Muscle , Cell Biology , Pulmonary Artery , Cell Biology , RNA-Dependent RNA Polymerase , RNA, Messenger , Genetics , Serotonin , Pharmacology , Telomerase , PharmacologyABSTRACT
18 fungal strains including N.coenophialum,N.lolii, N.huerfanum、N.chisosum、N.aotearoae、N.sp.and 8 varieties of grass seeds belonging to Festuca arundinacea and Lolium perenne have been studied.With amplification of IS1～IS3 and F1～R1 of genomic DNA, the primers Tub-2-F～Tub-2-R from Tubulin-2 gene and F3～R3 from NC25 gene have been designed.A PCR method to detect N.coenophialum and N.lolii was established, and also a nested-PCR method to detect N.coenophialum and N.lolii in single seed was established.These PCR detection methods are strongly special and much credible and rapid-speeded.