A pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2 causing spastic paraplegia 77.

FARS2-associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2. Both patients gradually developed altered gaits and weakness in both lower limbs.

[Effects of rapamycin on cholesterol homeostasis and secretory function of 3T3-L1 cells].

Objective: To investigate the effects of rapamycin on cholesterol homeostasis and secretory function of 3T3-L1 cells.

Methods: The in vitro cultured 3T3-L1 cells (preadipocytes) were divided into control group, rapamycin 50 nmol/L group, rapamycin 100 nmol/L group, and rapamycin 200 nmol/L group. Intracellular cholesterol level was measured by oil red O staining and high performance liquid chromatography.

[Improved angiogenesis by P-selectin glycoprotein ligand-1 overexpression in endothelial progenitor cells].

Objective: To explore whether overexpression of P-selectin glycoprotein ligand-1 (PSGL-1) promotes the adhesive ability of endothelial progenitor cells and functionally facilitates neovascularization in mouse model of hindlimb ischemia.

Methods: Rat endothelial progenitor cells were transfected with recombinant adenovirus vector encoding human PSGL-1. The mRNA and protein expression levels of PSGL-1 were measured by RT-PCR and Western blot, respectively.

[Prevention of rupture of atherosclerotic plaque by Candesartan in rabbit model].

Objective: To evaluate Candesartan therapeutic effect against atherosclerotic plaque rupture and to explore the related mechanisms.

Methods: Thirty-four New Zealand White male rabbits were randomly divided into three groups: the control group, the model control group and the Candesartan intervention group. The control group rabbits were fed with a normal diet.

[Urokinase receptor expression in atherosclerotic plaques of human femoral arteries].

Objective: To observe the urokinase receptor (uPAR) expression in atherosclerotic plaques of human femoral arteries.

Methods: Human femoral artery samples were collected from patients underwent femoral endarterectomy. Normal internal mammary artery samples were taken from bypass surgery served as control.

[The effect of serum high-density lipoprotein on the growth rate of human endothelial progenitor cells].

Objective: To study the effect of high-density lipoprotein (HDL) on the proliferation of endothelial progenitor cells (EPC) isolated from human umbilical cord blood; to further explore its effect on prevention and development of atherogenesis.

Methods: EPC isolated by density gradient centrifugation were cultured in a M200 medium. Immunofluorescence staining for CD133, CD34, KDR and Factor VIII were adopted respectively as the specific markers for identification.

Effect of oxidized-LDL on NF-kappaB nuclear translocation in aortic smooth muscle cells originated from rats of different ages.

Objective: To investigate the molecular mechanism of atherosclerosis that related to age.

Methods: Immunohistochemistry staining and Western blot were adopted to determine the nuclear translocation of nuclear factor-kappa B (NF-kappaB) and expression of platelet-derived growth factor B (PDGF-B) in smooth muscle cells (SMCs) co-cultured with low density lipoprotein (LDL), oxidized LDL (ox-LDL), and ox-LDL+high density lipoprotein (HDL) originated from rats of 2 and 10 months old respectively. Fat stain was used to identify the lipid intake in SMCs.

[Detection of NF-kappaB activation and platelet-derived growth factor-B expression in endothelial cells of hypercholesterolemic rats].

Objective: To detect whether the activation of nuclear factor-kappa B (NF-kappaB) in endothelial cells induced by mm-LDL can promote platelet-derived growth factor-B (PDGF-B) expression in vitro, and whether it is also present in hypercholesterolemic rats in vivo, influence of age on NF-kappaB and PDGF-B signal transduction pathway.

Methods: Established hypercholesterolemic rat model by feeding with a high-cholesterol ration. The activation of NF-kappaB in aortic endothelial cells was identified by immunohistochemical staining, the expression of PDGF-B mRNA and PDGF-B protein were examined using in situ hybridization and immunohistochemistry respectively.