Spontaneous intracerebral hemorrhage (SICH) is a form of brain parenchymal hemorrhage caused by a variety of non-traumatic reasons, resulting in cerebral artery, veins or capillaries rupture. The etiology of SICH is variable, with hypertensive intracerebral hemorrhage being the most common, accounting for 60% ~ 81% of all cases. Cerebral amyloid angiopathy, drug use related hemorrhage, Moyamoya disease are also important causes of SICH. Previous studies showed that genetic factors play an important role in the pathogenesis of SICH. Here the genetic mechanisms of SICH and classification of its etiology are reviewed.
Biomedical Research ; methods ; trends ; Cerebral Hemorrhage ; diagnosis ; genetics ; Genetic Predisposition to Disease ; genetics ; Genetic Variation ; Genotype ; Humans ; Mutation ; Polymorphism, Single Nucleotide

Objective To observe the effect of spleen deficiency syndrome induced by rhubard solution combined with lung fibrosis induced by bleomycin on lung function of rats, so as to discuss the relationship between spleen deficiency syndrome (SDS) and pulmonary fibrosis.Methods SD rats were randomly divided into normal group, SDS group, model group, SDS + lung fibrosis group.The rat SDS model was induced by intragastrical administration of rheum officinale with fasting every other day for 30 days.Then the rats were infused bleomycin(5 mg/kg)through tracheal intubation to simulate the lung fibrosis disease with SDS.Four weeks after injection of bleomycin, rats' lung function was detected, lung index and spleen index were calculated, and the pathological changes of lung tissue and aiway were observed by using HE staining and Masson staining.Results Compared with the normal group, weight of lung, lung index, FEV0.4/FVC% were increased in the model group(P<0.05), and the lung dynamic compliance (Cdyn), forced vital capacity (FVC), FVC /lung weight decreased, peak expiratory flow rate (PEF) as well as maximal mid-expiratory flow rate (MMF) decreased in model group(P<0.05).What bleomycin caused was characterized by airway centered interstitial fibrosis.In the small airway, the shed epithelial cells and mucus plugs could been seen.The lung function of rats of SDS group had no difference with that of the healthy cats.Compared with the model group, FEV0.4/FVC% significantly increased (P<0.05) and the area ratio of interstitial fibrosis increased in the SDS+ lung fibrosis group.Conclusion Spleen deficiency syndrome is a potential adverse factor to aggravate restriction of ventilation function due to bleomycin.

OBJECTIVE: To investigate whether the mutation of P387L in SLC18A2 gene is a cause for sporadic Parkinson's disease (PD) in Chinese Han population.
 METHODS: A total of 931 subjects (455 sporadic PD patients and 476 healthy controls) were enrolled in our study. SLC18A2 P387L was genotyped by matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF MS) and the results were verified by Sanger sequencing. Furthermore, a case-control study was used to investigate the relationship between the mutation and sporadic PD.
 RESULTS: There was no mutation in any of the 931 individuals.
 CONCLUSION The P387L mutation in SLC18A2 gene is rare in Chinese Han population, and P387L might not be a cause for Chinese sporadic PD. However, the role of this mutation in PD needs to be further verified through replication studies with large number of subjects and different population.
Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; Genotype ; Humans ; Mutation ; Parkinson Disease ; genetics ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ; Vesicular Monoamine Transport Proteins ; genetics

OBJECTIVE: To investigate the effect of the L10P mutation on the cellular mitochondrial disfunction. METHODS: Spectrophotometer, flow cytometry and electron microscope was utilized to examine cell viability, reactive oxygen species (ROS), mitochondrial transmembrane potential, complex I activity and mitochondrial morphous of the HEK293 monoclone cell lines, in which wild-type and L10P mutant DJ-1 protein are stably expressed. RESULTS: Compared with the cell lines expressing empty vector, we found the ROS levels were elevated, the cell viability, mitochondrial transmembrane potential, complex I activity were reduced in the cells expressing L10P mutant DJ-1 protein (P<0.05). We also found mitochondria in these cells were swelling and some mitochondria were vacuolar degeneration. These phenomena were more obvious when rotenone was used. But in the cells expressing wild-type DJ-1, ROS levels were lower, the cell viability, mitochondrial transmembrane potential, and complex I activity were higher than other cell lines (P<0.05), especially under the induction of rotenone. These results suggested that L10P mutant DJ-1 protein probably lost the ability of anti-oxidative stress and affect the normal function of mitochondria. CONCLUSION The L10P DJ-1 mutation results in a toxic protein, which lacks the protective function of wild-type protein on mitochondria due to the decrease in the ability of anti-oxidative stress.
Cell Survival ; HEK293 Cells ; Humans ; Intracellular Signaling Peptides and Proteins ; genetics ; Membrane Potential, Mitochondrial ; Mitochondria ; pathology ; Mutation ; Oncogene Proteins ; genetics ; Oxidative Stress ; Protein Deglycase DJ-1 ; Reactive Oxygen Species ; metabolism ; Rotenone