Mutation analysis of CSMD3 gene in a pedigree of familial cortical myoclonic tremor with epilepsy / 中国医师杂志

Objective To investigate mutations of CSMD3 gene in a pedigree of familial cortical myoclonic tremor with epilepsy (FCMTE).Methods Peripheral blood (5 ml) was obtained from FCMTE patients (7 cases),suspected cases,and control individuals.Polymerase chain reaction (PCR) and purification of PCR products for sequencing were used to detect the existence of mutations in 73 exons of gene CSMD3.The resulting products were subjected to agarose gel electrophoresis and gel-imaging system.The PCR amplification products were sequenced.Results The sequencing results of 73 exons were compared with CSMD3gDNA sequence in human GenBank.We neither found any DNA sequence variation nor disease-related mutations.Conclusions The family does not have a mutation in the CSMD3 gene.We need to further find the disease genes and the mutations in this family.

Identification of a rare amyloid precursor protein gene mutation in a Chinese family with early-onset familial Alzheimer's disease / 中华神经科杂志

Objective To analyze the phenotype and genatics in a Chinese family with early-onset familial Alzheimer's disease(EOFAD). Methods Peripheral blood were collected in available members in the family and genomic DNA was extracted. PCR-sequencing of exon 16 and exon 17 of the amyloid precursor protein(APP) gene, presenilin 1 (PSEN1), and presenilin 2 (PSEN2) was performed. Results At age 40, two EOFAD patients (siblings) in the family developed an insidious onset of difficulties in memory. One ( Ⅱ3 in the pedigree) showed blinking. The other ( Ⅱ 5 ) showed irritability and bradykinesia.Progressive diffuse coritcal atrophy in bilateral temporal cortex was observed. Moderate diffuse cerebral dysfunction was observed in Ⅱ3 by the electroencephalogram study and neuropsychological assessments.Sequencing revealed that both patients were heterozygous for a mutation c. 2343 G ＞ A in exon 17 of APP,causing the amino acid substitution Val715Met. Four members ( Ⅱ1, Ⅱ 3, Ⅱ 5 and Ⅲ1 ) were homozygous for ApoE ε4 allele. Ⅱ9 was ε2/ε4. Conclusions This study identified a mutation, Val715Met in the APP gene in Chinese patients with EOFAD. We suggest screening for APP gene mutations in Chinese patients with EOFAD.

Establishment of cell model of Parkinson's disease and toxic effect of rotenone on dopaminergic neurons / 吉林大学学报(医学版)

Objective To establish cell model of Parkinson's disease(PD)and to approach the toxic effect of rotenone on dopaminergic neurons and its mechanism.Methods PC12 cells were differentiated into dopaminergic neurons and treated with various concentrations of rotenone.The morphological changes of PC12 cells were observed after treated with rotenone(0,10,25,50,75,and 100 nmol?L-1)for 24,48 and 72 h,the cell viability was measured by MTT assay.Immunohistochemistry and immunofluorescence were used to observe the accumulation of ?-synuclein in cytoplasm.AO/EB double staining was also adopted to test apoptosis.Results After differentiation PC12 cells shaped irregularly with big and long ecptomas and multiple cell conjunctions.After the treatment of rotenone cell ecptomas vanished gradually and cell bodies became smaller and smoother.The cell viability began to decline significantly at a concentration of 50 nmol?L-1 for 24 h(P