Actinin/genetics* ; Anemia ; Blood Platelets/pathology* ; Female ; Humans ; Male ; Megakaryocytes ; Mutation, Missense ; Pedigree ; Thrombocytopenia/genetics*

Genetic factors play a key role in human athletic ability, and endurance quality and explosive power quality are the important components of athletic ability. In this review, we aimed to reveal the biological genetic mechanism of human athletic ability at the molecular level through summarizing the relationship between genetic variants and human athletic ability, including endurance quality related genetic markers angiotensin converting enzyme (ACE) gene, creatine kinase MM (CKMM) gene and explosive power quality related genetic markers alpha actinin 3 (ACTN3) gene, angiotensinogen (AGT) gene and interleukin6 (IL6) gene. Meanwhile, we also summarized the distribution of allele frequencies among various populations.
Actinin/genetics* ; Athletic Performance ; Gene Frequency ; Genetic Markers ; Genotype ; Humans ; Polymorphism, Genetic

Actinin ; genetics ; Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Athletes ; Athletic Performance ; China ; Ethnic Groups ; genetics ; Female ; Humans ; Male ; Polymorphism, Genetic ; Young Adult

OBJECTIVETo investigate the expression of Junctophilin 1 (JP1) in cardiogenesis of mammalian.

METHODSCardiac differentiation of embryonic stem cells (ESCs) was generated by hanging drop method. Fetal heart was obtained from the rats aged d 14-20 of gestation. The expression of JP1 and JP2 during cardiogenesis of ESCs and rat embryos was analyzed by RT-PCR or Western blotting. Immunofluorescence staining was employed to reveal the distribution of JP1 and JP2 in embryoid body (EB), probing for merging of JP1 and JP2 and cardiac sarcomeric α-Actinin or Troponin-T. Percentage of JP1 and JP2-positive staining cells was analyzed quantitatively by FCS on d17.

RESULTSJP1 mRNA was up-regulated at the early stage (d 5-11) and then decreased. The expression of JP1 protein was up-regulated at the early stage (d 7-9), then decreased gradually and disappeared after d 15. While JP2 gene and protein expression increased in a time-dependent manner during cardiogenesis of rat embryos. The results of immunofluorescence staining showed that there was a parallel co-localization of JP2 with Troponin-T or α-Actinin on d17, while JP1 failed to express in the sarcomeric positive area at the same time point. Furthermore, FCS analysis showed that about 16.59% of cells were JP2-positive, while no cells were stained positively for JP1 in d17 EBs.

CONCLUSIONJP1 gene is expressed during the whole process of cardiogenesis, while JP1 protein only appears on the early stage. The expression of JP1 in cardiogenesis of ESCs is consistent with that of rat embryos.

Actinin ; genetics ; metabolism ; Animals ; Cell Differentiation ; Cell Line ; Embryonic Stem Cells ; cytology ; metabolism ; Heart ; embryology ; Membrane Proteins ; genetics ; metabolism ; Mice ; Mice, Inbred ICR ; Myocytes, Cardiac ; cytology ; metabolism ; RNA, Messenger ; genetics ; Rats ; Troponin T ; genetics ; metabolism

The aim of this study is to investigate the effects of pulsed electromagnetic fields (PEMFs) on the induction of rat bone marrow mesenchymal stem cells (rBMSCs) to differentiate into cardiomyocytes-like cells in vitro. rBMSCs were randomly divided into PEMFs groups, 5-Azacytidine (5-Aza) groups and control groups. PEMFs groups were exposed to 50 Hz, 1 mT PEMFs for 30 min every day, lasting for 10 d, 15 d and 20 d, respectively. 5-Aza groups were induced by 10 micromol/L 5-Aza for 1 day, then the medium was changed to complete medium without 5-Aza. And control groups were only cultured with complete medium, rBMSCs growth status and morphological features were observed by inverted phase microscope every day. The mRNA expressions of cardiac troponin T (TNNT2) and alpha-actinin (ACTN2) were determined by Real-Time PCR. The results showed that rBMSCs were spindle, polygon or fusiform in control groups. The cells gradually got longer and grew close together after being stimulated by PEMFs and 5-Aza, and with the extension of induction time, the tendency became obvious. At 20th day after PEMFs or 5-Aza treatment, rBMSCs gathered like a long chain, got much longer obviously at the high magnification, and some of them even fused with their neighbors. Compared with control groups, the levels of TNNT2 mRNA expression in 5-Aza groups were 19.40 fold (P < 0.01), 21.02 fold (P < 0.01) and 2.38 fold at 10 d, 15 d, 20 d and the levels of ACTN2 mRNA expression in 5-Aza groups were 6.64 fold (P < 0.01), 6.67 fold (P < 0.01) and 0.76 fold at 10 d, 15 d, 20 d. However, the levels of TNNT2 mRNA expression in PEMFs groups were 15.78 fold (P < 0.01), 6.73 fold (P < 0.05) and 2.73 fold (P < 0.01) of control groups at 10 d, 15 d, 20 d and the levels of ACTN2 mRNA expression in PEMFs groups were 4.93 fold (P < 0.01), 1.89 fold and 0.64 fold, respectively. Compared with 5-Aza groups, the levels of TNNT2 mRNA expression in PEMFs groups were 0.81 fold, 0.32 fold (P < 0.01) and 1.15 fold at 10 d, 15 d, 20 d and the levels of ACTN2 mRNA expression in PEMFs groups were 0.74 fold, 0.28 fold (P < 0.01) and 0.83 fold at 10 d, 15 d, 20 d. PEMFs could contribute to the induction of rat marrow rBMSCs to differentiate into cardiomyocytes-like cells in vitro, and the best exposure time might be 10 days, but further investigation is still needed.
Actinin ; genetics ; metabolism ; Animals ; Bone Marrow Cells ; cytology ; radiation effects ; Cell Differentiation ; radiation effects ; Cells, Cultured ; Electromagnetic Fields ; Mesenchymal Stromal Cells ; cytology ; radiation effects ; Myocytes, Cardiac ; cytology ; radiation effects ; RNA, Messenger ; genetics ; metabolism ; Rats ; Rats, Sprague-Dawley

OBJECTIVEAutosomal recessive steroid-resistant nephrotic syndrome (SRNS) is a subgroup of familial nephrotic syndrome. A causative gene has been identified, that is NPHS2, in chromosome 1q25-31, which encodes podocin. This study aimed to detect NPHS2 mutation in a Chinese family with SRNS.

METHODSRenal biopsy was performed on the proband and her sibling for routine histologic and immunohistochemical investigation and electron microscopic examination. The expressions of podocin, nephrin, alpha-actinin and WT1 in glomeruli of the proband were detected by indirect immunofluorescence. Peripheral blood samples were collected for genetic analysis from the proband and her parents, and 53 adults with normal urinalysis. Genomic DNA was isolated from peripheral blood leucocytes. Eight exons of NPHS2 were amplified by polymerase chain reaction. Mutational analysis was performed using denaturing high-performance liquid chromatography (DHPLC) and DNA fragments with aberrant elution profiles of both strands revealed by DHPLC were re-amplified and sequenced directly.

RESULTSThe histologic findings on kidney biopsies were focal segmental glomerulosclerosis. In controls, the distribution of staining with P35, rabbit against a human podocin recombinant protein (amino acids 135 - 383 = all the C-terminal part of the protein downstream the transmembrane domain), and P21, rabbit against a human podocin recombinant protein (amino acids 15 - 89 = all the N-terminal part of the protein upstream the transmembrane domain) showed a linear pattern along glomerular capillary walls on glomeruli, and the fluorescent intensity of the staining with P35 was intensely positive. The fluorescent intensity of the staining with P21 was positive. In the proband, the distribution of the staining with P35 showed uneven and nonlinear, and the fluorescent intensity of the staining with P35 was weakly positive. The staining with P21 was negative. The area, location, distribution and fluorescent intensity of the staining with nephrin, alpha-actinin and WT1 on glomeruli of the proband were the same as those in the controls. The DHPLC elution profiles of exon 4 of NPHS2 from the proband and her parent were aberrant. The chromatograms by sequencing detected in the exon 4 of NPHS2 showed a composite heterozygous mutation of both 467_468insT and 503G > A in the proband, a heterozygous mutation of 503G > A in her father, and a heterozygous mutation of 467_468insT in her mother, respectively.

CONCLUSIONThe study demonstrated for the first time a novel mutation, 503G > A, of NPHS2 in Chinese kindred with autosomal recessive SRNS. A significantly decreased or negative expression was also revealed in glomeruli of the proband stained with two kinds of anti-podocin antibodies.

Actinin ; analysis ; Adult ; Aged ; Base Sequence ; Child ; DNA Mutational Analysis ; Drug Resistance ; Female ; Fluorescent Antibody Technique, Direct ; Humans ; Infant ; Intracellular Signaling Peptides and Proteins ; Kidney ; immunology ; pathology ; Male ; Membrane Proteins ; analysis ; genetics ; Mutation ; genetics ; Nephrotic Syndrome ; genetics ; Pedigree ; Polymerase Chain Reaction ; Proteins ; analysis ; WT1 Proteins ; analysis

OBJECTIVETo examine suppressive effects of multi-glycoside of Tripterygium wilfordii Hook. f. (GTW)on mesangial injury induced by two-injecti on of anti-Thy1. 1 monoclonal antibody(mAb) 1-22-3 in vitro.

METHODWe established the irreversible model of glomerulosclerosis with anti-Thy1. 1 mAb 1-22-3. After 42 days of oral treatment with GTW (50 mg x kg(-1) BW)and vehicle (distilled water), to observe effects of GTW on proteinuria, renal function, mesangial morphological change, and mRNA expressions of collagen type I and TGF-beta by light microscope (LM), immunofluorescence (IF), and Reverse Transcription Polymerase Chain Reaction (RT-PCR).

RESULTGTW ameliorated proteinuria (from day24 to day 42) and mesangial proliferation [total cell number, GTW group 65.67+/-3.43 vs. control group 87.02+/-2.41, P < 0.05; matrix expansion, GTW group 1.20+/-0.06 vs. control group 2.77+/-0.23, P < 0.05; alpha-smooth muscle actin(alpha-SMA) expression, GTW group 1.75+/-0.33 vs. control group 2.62+/-0.15, P < 0.05; collagen type I expression, GTW group 1.68+/-0.31 vs. control group 2.06+/-0.24, P < 0.05], moreover, significantly reduced the glomerular expression of mRNA for collagen type 1(53.5% to the control group, P < 0.05)and TGF-beta(14.7% to the control group, P < 0.05)on day 42day.

CONCLUSIONGTW can not only decrease proteinuria, but also ameliorate mesangial alterations probably by the reduction of cytokines. GTW may be a promising agent for the prevention of progressive and irreversible glomerulosclerosis.

Actinin ; metabolism ; Animals ; Collagen Type I ; biosynthesis ; genetics ; Female ; Glomerular Mesangium ; metabolism ; pathology ; Glomerulonephritis, Membranoproliferative ; metabolism ; pathology ; Glycosides ; isolation & purification ; pharmacology ; Plants, Medicinal ; chemistry ; Proteinuria ; drug therapy ; RNA, Messenger ; biosynthesis ; genetics ; Rats ; Rats, Wistar ; Transforming Growth Factor beta ; biosynthesis ; genetics ; Tripterygium ; chemistry