Expression of the gene coading for PGC-1α in peripheral blood leukocytes and related gene variants in patients with Parkinson's disease.

INTRODUCTION: Peroxisome proliferator-activated receptor (PPAR)-γ coactivator-1α (PGC-1α) plays an important role in Parkinson's disease (PD). The aim of the study was to evaluate PGC-1α gene expression in the peripheral blood of PD patients. We also investigated PGC-1α-related gene variants and identified whether they are associated with PGC-1α gene expression. METHODS: 259 PD patients and 253 healthy controls were included in this study. PPARGC1A (the gene encoding PGC-1α) expression levels were tested using real-time PCR. Single nucleotide polymorphisms (SNPs) of the PGC-1α-related genes (PPARGC1A, PPARG and SIRT1) were genotyped by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS). RESULTS: PPARGC1A levels were significantly decreased in PD patients (P = 0.000) and negatively correlated with the patients' H&Y stage (r = -0.212, P = 0.039) and UPDRS-III score (r = -0.208, P = 0.044), after correcting, these correlations disappeared. The genotype frequencies of PGC-1α-related gene variants were not associated with the risk of PD. PPARGC1A rs2970870 variant was associated with the NMS score (P = 0.026), SIRT1 rs7895833 variant was associated with HAMA score (P = 0.029). PPARG rs4684847 variant was associated with MMSE score (P = 0.031). PPARG rs1801282, rs4684847, rs3856806 variants were associated with MoCA score. After correcting, only the association between PPARG rs4684847 and MoCA score remained significant (FDR = 0.048). PGC-1α-related gene variants had no effect on PGC-1α gene expression. CONCLUSION: The decreased expression of PGC-1α may not be due to its related gene variants. PGC-1α could become a candidate blood-based biomarker for diagnosis and monitoring disease progression.

Fatigue correlates with LRRK2 G2385R variant in Chinese Parkinson's disease patients.

INTRODUCTION: Fatigue is common in patients with Parkinson's disease (PD). The leucine-rich repeat kinase 2 (LRRK2) G2385R variant predisposes individuals to develop PD in China. The aim of this study was to evaluate whether the LRRK2 G2385R variant is associated with fatigue in patients with PD. METHODS: Fatigue was evaluated by the Parkinson Fatigue Scale (PFS) in 329 PD patients and 180 controls, a cut-off score of ≥3.3 was used to define the presence of fatigue. All the enrolled PD patients were assessed by a comprehensive battery of motor and non-motor questionnaires. PD patients were genotyped for the G2385R variant. Associations of fatigue with the clinical assessments and with the G2385R variant in PD patients were analyzed by logistic regression. RESULTS: Fatigue frequency was 55.62%. A logistic regression model found that the female sex (OR = 10.477; 95%CI: 2.806-39.120; p < 0.001), motor function (OR = 1.060; 95%CI: 1.012-1.110; p = 0.013), sleep disturbance (OR = 0.943; 95%CI: 0.910-0.976; p = 0.001) and depression severity (OR = 0.843; 95%CI: 0.736-0.965; p = 0.013) collectively predict the presence of fatigue in PD patients. After adjustment for demographics and associated clinical factors, the G2385R variant was associated with an increased risk for the presence of fatigue (OR = 10.699; 95% CI = 2.387-47.958; p = 0.002) in the PD population in this study. CONCLUSION: We confirm that fatigue in PD patients is common, and we have strengthened the associations between fatigue and female sex, motor severity and non-motor symptoms, particularly depression and sleep disturbances. Overall, we found that carriers of the G2385R variant were more prone to fatigue than non-carriers in PD patients.

[The differences between adipose tissue derived stem cells and lipoma mesenchymal stem cells in characteristics].

OBJECTIVE: To compared the biological characteristics of adipose-derived stem cells and lipoma-derived mesenchymal stem cells (LMSCs) in vitro, so as to assess the safety of adipose-derived stem cells( ASCs) for transplantation. METHODS: Regular slice and stain of adipose and lipoma tissue were performed. ASCs and LMSCs were isolation from the two tissues by enzymatic digestion, and the appearance of the cultured cells was observed. The cell viability was evaluated with MTS chromatometry and cell growth curve was generated. Flow cytometry was performed for cell cycle analysis and the expression of the cell surface marker profiles. QRT-PCR was used to detect the expression of tumor-specific gene (the high-mobility group AT-hook 2, HMGA2), and immunocytochemistry was used to detect the expression of telomerase. RESULTS: Marked difference was observed in histologic sections of adipose tissue and lipoma tissue. ASCs showed a good consistent in cell morphology while LMSCs not. ASCs showed a significant lower proliferation capacity than LMSCs by MTS chromatometry (P = 0.000). The expression of CD29, CD44, CD105 was similar in ASCs and LMSCs, while the level of CD133 was significantly lower in ASCs (5.35%) than in LMSCs (26.87%). The expression of HMGA2 was lower in ASCs (RQ = 1) than in LMSCs (RQ = 1.79) by qRT-PCR, it has statistically difference between them (P < 0.01); And in ASCs and LMSCs, the integrated optical intensity (IA) values of hTERT expression are 1379.597 +/- 498.617 and 3 328.108 +/- 902.856, size (area) are 132,390.27 +/- 35,568.945 and 238,000.53 +/- 49,264.289, density (mean) are 0.009 +/- 0.003 and 0.014 +/- 0.003, revealed the expression of hTERT also shown a significant lower level in ASCs than in LMSCs by immunocytochemistry. CONCLUSIONS: It indicates significant difference between ASCs and LMSCs in the biological characteristics in vitro. There is no evidence of malignant transformation of ASCs.