Screening for, andVariants in a Cohort of Chinese Patients with Charcot-Marie-Tooth / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families.</p><p><b>METHODS</b>A total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital. We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL, and RAB7. Candidate variants were analyzed based on the standards and guidelines of American College of Medical Genetics and Genomics (ACMG). Clinical features were reevaluated.</p><p><b>RESULTS</b>We identified three novel heterozygous variants such as p.L95V (c.283C>G), p.L1048P (c.3143T>C), and p.V1105M (c.3313G>A) of SH3TC2 gene and no pathogenic variants of PMP2 and BSCL2 genes. Although evaluation in silico and screening in the healthy control revealed that the three SH3TC2 variants were likely pathogenic, no second allele variants were discovered. According to the standards and guidelines of ACMG, the heterozygous SH3TC2 variants such as p.L95V, p.L1048P, and p.V1105M were considered to be of uncertain significance.</p><p><b>CONCLUSIONS</b>SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese CMT patients. Further studies to confirm our findings are needed.</p>

Effects of bisphenol A on the expression of N-cadherin, Vimentin and FSHR in rat Sertoli cells / 中华劳动卫生职业病杂志

Objective@#To explore the effects of BPA on the expression of N-cadherin, Vimentin and FSHR in rat Sertoli cells.@*Methods@#Primary Sertoli cells collected from prepuberty rats (18-21 d) were cultured for 48 h, and then they were treated with 0, 30, 50, 70 μmol/L BPA respectively for 24 h. The methods of MTT, real-time quantitative PCR and Western blotting were utilized to measure the cell ability of Sertoli cells, the mRNA and protein expression levels of N-cadherin, Vimentin and FSHR respectively.@*Results@#Compared with control, the cell abilities of Sertoli cells in 50 μmol/L BPA group and 70 μmol/L BPA group increased significantly (P<0.05) . The cell abilities of Sertoli cells decreased with the increases of exposure doses of BPA. Compared with control, the expression of N-cadherin mRNA only increased in 30 μmol/L BPA group (P<0.05) , the expression of Vimentin mRNA decreased significantly in all doses group of BPA (P<0.05) , the expression of FSHR mRNA increased in all doses group of BPA (P<0.05) . Compared with the control, the protein levels of N-cadherin increased significantly in 50 μmol/L BPA group (P<0.05) , the protein levels of Vimentin decreased significantly in all doses group of BPA (P<0.05) , the protein levels of FSHR decreased significantly in 50 μmol/L BPA group and 70 μmol/L BPA group (P<0.05) .@*Conclusion@#The mechanism of testicular toxicity from BPA might be the alterations of N-cadherin, Vimentin and FSHR by disturbing normal spermatogenesis.

The impact of atrial function on mitral regurgitation using three-dimensional transesophageal echocardiography with one-year follow-up / 中华超声影像学杂志

Objective To determine whether changes in mitral annular spatial conformation and left atrial(LA)volume are closely related to atrial functional mitral regurgitation(AMR)in patients with atrial fibrillation and before or after the sinus rhythm recovery using real-time three-dimensional transesophageal echocardiography(RT-3D TEE).Methods Fifty-five patients with AMR of at least moderate severity who completed one-year of clinical follow-up after ablation were included in this study.Before ablation and after being followed for one year,intercommissural(IC) and anteroposterior(AP) diameter,annular height (AH)and area(MVA),tenting height(TH)and volume(TV),annular spherical index(ASI),fractional area change of MVA(MVA-FAC),and coaptation index(CPI)were defined and measured by mitral valve quantification software(MVQ).Left atrial volume(LAV),left atrial volume index(LAVI),left atrial area (LAA),left atrial diameter(LAD)and effective regurgitant orifice area(EROA)were also recorded. Results After one year of follow-up,AMR decreased significantly in patients with sinus rhythm[EROA:(0.27±0.03)cm2vs(0.21 ±0.04)cm2,P <0.001].LAA,LAV and LAVI were improved in patients with sinus rhythm[LAA:(22.70±3.34)cm2vs(18.80±3.45)cm2,LAV:(52.77±5.41)cm2vs(45.22± 6.49)cm2,LAVI:26.30±3.12 vs 22.98±3.03,all P <0.001].CPI(β=-0.549,P <0.05),MVA-FAC (β=-0.309,P <0.05)and LAV(β=1.712,P <0.05),MVA-FAC)were independently associated with the reduction in EROA.Conclusions AMR can be decreased through the sinus rhythm recovery and maintenance after ablation,which are caused by improvement of left atrial volume load and leaflets coaptation capability.RT-3D TEE may dynamically assess the changes in leaflets/annular configuration during the AMR follow-up.

Influence of simvastatin on dopaminergic neurons of lipopolysaccharide-induced rat model of Parkinson's disease

OBJECTIVE@#To investigate the neuroprotective effects of simvastatin on lipopolysaccharide (LPS)-induced rat model of Parkinson's disease (PD) and the mechanisms involved.@*METHODS@#Hemiparkinsonian rat models were induced by stereotaxieal injection of LPS in the right substantia nigra compacta. After 2 weeks of simvastatin treatment, rotational behavior test was performed after the intraperitoneal injection of apomorphine. Expression of tyroxine hydroxylase (TH) and glial fibrillary acidic protein were analyzed through immunohistochemical staining of substantia nigra and striatum, and the level of TNF- α was evaluated using enzyme-linked immunosorbent assay.@*RESULTS@#Comparing with untreated group, behavioral symptoms of the rats were significantly less in the rats that received simvastatin treatment. The TH positive cell count in substantia nigra and striatum were significantly increased (P<0.05) and TNF- α expression was significantly decreased (P<0.05) in simvastatin group compared to untreated group.@*CONCLUSIONS@#Simvastatin could effectively inhibit the activation of astrocytes, reduce TNF- α expression, and exert anti-inflammatory effects, and thus protect the dopaminergic neurons in substantia nigra and striatum of the rat model of PD.

Influence of simvastatin on dopaminergic neurons of lipopolysaccharide-induced rat model of Parkinson's disease

Objective: To investigate the neuroprotective effects of simvastatin on lipopolysaccharide (LPS)-induced rat model of Parkinson's disease (PD) and the mechanisms involved. Methods: Hemiparkinsonian rat models were induced by stereotaxieal injection of LPS in the right substantia nigra compacta. After 2 weeks of simvastatin treatment, rotational behavior test was performed after the intraperitoneal injection of apomorphine. Expression of tyroxine hydroxylase (TH) and glial fibrillary acidic protein were analyzed through immunohistochemical staining of substantia nigra and striatum, and the level of TNF- α was evaluated using enzyme-linked immunosorbent assay. Results: Comparing with untreated group, behavioral symptoms of the rats were significantly less in the rats that received simvastatin treatment. The TH positive cell count in substantia nigra and striatum were significantly increased (. P<0.05) and TNF- α expression was significantly decreased (. P<0.05) in simvastatin group compared to untreated group. Conclusions: Simvastatin could effectively inhibit the activation of astrocytes, reduce TNF- α expression, and exert anti-inflammatory effects, and thus protect the dopaminergic neurons in substantia nigra and striatum of the rat model of PD.

Left ventricular volume and mitral annular motion under different occluders for atrial septal defect occlusion:an evaluation by real-time three-dimensional echocardiography / 中国组织工程研究

BACKGROUND:Occluder closure of atrial septal defect exhibits clear function, safety and efficiency advantages ＜br> OBJECTIVE:Using real-time three-dimensional echocardiography (RT-3DE) technique to evaluate the effect of atrial septal defect occlusion using different occluders on left ventricular structure and motion of the mitral annulus. ＜br> METHODS:Thirty-seven cases diagnosed as atrial septal defect underwent atrial septal defect occlusion, including 20 males and 17 females, aged 20-60 years. The occluder was chosen individual y according to defect size and edge hardness. Conventional and RT-3DE examinations were performed at 1 day prior to occlusion, 1 and 3 months after occlusion. ＜br> RESULTS AND CONCLUSION:Four of 37 patients were withdrawn from the study because of poor RT-3DE results. The other 33 patients harvested good occlusion results. At 1 and 3 months after occlusion, left ventricular end diastolic volume, left ventricular end systolic volume, left atrial end diastolic volume, left atrial end systolic volume were significantly increased (P＜0.05). Moreover, the more increase in these parameters occurred at 3 months after occlusion (P＜0.05). There were no significant changes in left ventricular ejection fraction and mitral annular displacement at three different time points. Left ventricular volume change rate and left atrial volume change rate were positively correlated to the type of occluders, while there was no correlation between endocardial cushion stump and mitral annular displacement. These findings suggest that atrial septal defect occlusion can increase the volume of the left ventricle and left atrium, but exhibit no effect on the motion of the mitral annulus.

Effect of clinical nursing pathway in double C treatment of elderly patients with type 2 diabetes / 中国实用护理杂志

Objective To observe the effect of clinical nursing pathway used in double-C treatment of elderly patients with type 2 diabetes.Methods 140 elderly type 2 diabetic patients were randomly divided into the control group and the experimental group with 70 cases in each group,both groups adopted double C treatment.The control group received routine care,on the basis of routine nursing care,the experimental group implemented CNP mode.After treatment,type 2 diabetes knowledge mastering levels,the number of days of blood glucose reaching standard level,insulin dosage,incidence of hypoglycemia,satisfaction degree with quality of care,compliance rate and passing rate of health education were compared.Results After treatment,for patients with good compliance rate,the control group accounted for 50.00％,the experimental group accounted for 68.57％,the compliance rate of the experimental group was better than the control group.The incidence of hypoglycemia in the control group was 10.00％,and 1.43％ in the experimental group.The kn owledge mastering levels and satisfying rate with nursing care were 67.14％ and 82.86％ in the control group,and 95.71％ and 98.57％ in the experimental group.The number of days of blood glucose reaching standard level,insulin dosage,passing score of health education were (8.35 ± 1.41) d,(60.36±9.23) U/d,(65.20±3.42) points in the control group,and (4.68±1.32) d,(42.34±7.74) U/d,(90.15±2.15) points in the experimental group.The results of the experimental group were better than those of the control group.Conclusions The clinical nursing pathway in double C treatment of elderly patients with type 2 diabetes demonstrates the advantages of advance,orderly and efficiency,which is worthy of further research and extension.

Construction,prokaryotic expression and purification of FimH1-156 fusion protein / 重庆医学

Objective To construct and express a prokaryotic expression vector carrying the gene of FimH 1-156 that comprises human lysosome membrane protein 2 P41-49 gene ,and to express and purify the fusion protein .Methods FimH1-156 gene was cloned from plasmid pPKL241 by PCR ,and inserted into vector pET-28a(+ ) to obtain prokaryotic expression plasmid pET-28a-FimH . After transforming Escherichia coli BL21(DE3) with pET-28a-FimH ,fusion protein FimH1-156 was expressed under induction .The target fusion protein was purified ,and its antigenicity was detected through Western blot .Results The expressed recombinant pro-tein was purified ,the expression of protein was the highest when IPTG was 1 mmol/L and 4h after induction ,it was expressed as include body form ,and the expressed protein was identified to react with monoclonal antibodies 6 × His by Western blotting .Conclu-sion We cloned FimH1-156 fusion protein expressed genes successfully ,constructed prokaryotic expression vector ,and won the in-clusion body purification of FimH1-156 fusion protein .

Cloning and localization of A3IP -a novel protein that interacts with ataxin-3 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To clone an A3IP gene and investigate its cellular and histological localization based on previous research which has identified part of A3IP sequence interacting with carboxyl-terminal of ataxin-3.</p><p><b>METHODS</b>Bioinformatic and Northern blotting were applied to clone the A3IP gene and detect the expression of its transcripts in various human tissues and brain regions. Western blotting and immunofluorescence staining were applied to detect expression of A3IP protein in cultured cells. Immunohistochemistry staining was applied to study the expression of A3IP protein in various human tissues and brain regions.</p><p><b>RESULTS</b>cDNA cloning of A3IP gene's reading frame and its sequence assembly were completed. Three transcripts (1 kb, 1.35 kb and 6 kb, respectively) of A3IP were found to express in various human tissues and brain regions. A3IP pEGFP expresses in cytoplasm of cultured COS-7 cells and various human tissues and brain regions including cerebral cortex, cerebellum, muscle, peripheral nerve, liver and kidney.</p><p><b>CONCLUSION</b>The cloned A3IP gene encodes A3IP, a novel ataxin-3 interacting protein. Three transcripts of A3IP are expressed in various human tissues and brain regions. A3IP is a cytosolic protein.</p>

Functions of carboxyl-terminus of Hsc70 interacting protein and its role in neurodegenerative disease / 中华医学遗传学杂志

Neurodegenerative diseases are a group of chronic progressive neuronal damage disorders. The cause is unclear, most of them share a same pathological hallmark with misfold proteins accumulating in neurons. Carboxyl-terminus of Hsc70 interacting protein (CHIP) is a dual functional molecule, which has a N terminal tetratrico peptide repeat (TPR) domain that interacts with Hsc/Hsp70 complex and Hsp90 enabling CHIP to modulate the aberrant protein folding; and a C terminal U-box ubiquitin ligase domain that binds to the 26S subunit of the proteasome involved in protein degradation via ubiqutin-proteasome system. CHIP protein mediates interactions between the chaperone system and the ubiquitin-proteasome system, and plays an important role in maintaining the protein homeostasis in cells. This article reviews the molecular characteristics and physiological functions of CHIP, and its role in cellular metabolism and discusses the relationship between CHIP dysfunction and neurodegenerative diseases.

Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate a patient featuring a complex neuromuscular disease phenotype.</p><p><b>METHODS</b>A comprehensive analysis integrating clinical investigation, electrophysiological testing, pathological analysis and mutation screening was carried out.</p><p><b>RESULTS</b>The patient has presented clinical and pathological manifestations mimicking Duchenne muscular dystrophy. However, genetic analysis has identified no deletion in 21 exons of Dystrophin gene, no pathologic expansion of CTG repeats in DMPK gene or CCTG repeats in ZFN9 gene. Instead, a homozygous deletion of exons 7 and 8 in SMN gene was discovered.</p><p><b>CONCLUSION</b>A rare case of spinal muscular atrophy (SMA) was verified by genetic diagnosis. SMA is a group of neuromuscular disorders with great phenotypic heterogeneity and sometimes cannot be diagnosed by clinical manifestations, electrophysiological and pathological changes alone. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.</p>

Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease / 中华医学遗传学杂志

Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.

Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia / 中华医学遗传学杂志

Autosomal recessive cerebellar ataxias (ARCA) are a highly heterogeneous group of rare neurodegenerative diseases affecting both central and peripheral nervous systems. Based on pathological mechanisms, five major types of ARCA may be distinguished, which include mitochondrial ataxia, metabolic disorder, DNA repair defect ataxia, congenital ataxias and degenerative ataxia. This review summarizes clinical features, molecular genetics and recent advances in DNA sequencing of common types of ARCA.

Combined anti-tumor therapeutic effect of targeted gene, hyperthermia, radionuclide brachytherapy in breast carcinoma / 中华核医学杂志

Objective To investigate the antitumor therapeutic effect of combined therapy of magnetic induction heating by nano-magnetic particles, herpes simplex virus thymidine kinase gene(HSV-tk suicide gene) and internal radiation in mice bearing MCF-7 breast carcinoma. Methods The transfection reagents, plasmids heat shock protein-HSV-tk (pHSP-HSV-tk), ferroso-ferric oxide nano-magnetic fluid flow and 188Re-ganciclovir-bovine serum albumin-nanopaticles (GCV-BSA-NP) were prepared. The heating experiments in vivo were carried out using ferroso-ferric oxide nano-magnetic fluid flow. Sixty mice tumor models bearing MCF-7 breast carcinoma were established and randomly divided into six groups. Group A was the control group, B was gene transfection therapy group, C was hyperthermia group, D was gene transfection therapy combined with radionuclide brachytherapy group, E was gene therapy combined with hyperthermia group, and F was gene therapy, hyperthermia combined with radionuclide brachytherapy group. The tumor growth, tumor mass and histopathological changes were evaluated. The expression of HSV-tk in the groups of B, D, E and F was detected by RT-PCR. Poisson distribution and one-way analysis of variance (ANOVA) were used for statistical analysis by SPSS 10.0 software. Results In the animal heating experiments, the temperature of tumor increased up to 39.6 ℃, 43.2 ℃, and 48.1 ℃ quickly with different injected doses (2, 4 and 6 mg respectively) of nano-magnetic particles and maintained for 40 min. The temperature of tumor tissue reduced to 36.8 ℃, 37.5 ℃ and 37.8 ℃ in 10 min when alternating magnetic field (AMF) stopped. The tumor mass in Groups C ((452.50 ±30.29) mg), D ((240.98 ±35.32)mg), E((231.87 ±27.41) mg) and F ((141.55 ±23.78) mg) were much lower than that in Group A ((719.12±22.65) mg) (F=800.07, P＜0. 01), with the most significant treatment effect in Group F.The tumor mass in Group B((684.05 ±24.02) mg) was higher than that in Group D (t =32. 805, P ＜0. 05). Semi-quantitative RT-PCR analysis showed that the expression of HSV-tk in Groups B and D (0.33 ±0. 13 and 0. 46 ±0.12) was significantly different from that in Groups E and F (0.66 ±0.13 and 0.74 ±0. 11)(F = 21. 573, P ＜ 0.05). Conclusion Combined use of hyperthermia, gene therapy and radionuclide brachytherapy could effectively depress the growth of MCF-7 breast carcinoma, thus possessing treatment potential for this tumor.

Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To observe the cellular expression of (R127W) HSPB1 and its influence on neurofilament light chain (NFL) self-assembly and co-localization with NFL.</p><p><b>METHODS</b>Eukaryotic expression vectors pEGFPN1-(wt) HSPB1 and pEGFPN1- (R127W) HSPB1 were constructed. Hela cells were transiently transfected with pEGFPN1-(wt) HSPB1 or pEGFPN1- (R127W) HSPB1 and observed under a confocal microscope. Hela cells were also transiently co-transfected with Pcl-NFL and pEGFPN1-(wt)HSPB1, or pCL-NFL and pEGFPN1-(R127W)HSPB1. The self-assembly of NFL was observed and the co-localization study of HSPB1/ (R127W)HSPB1 with NFL was carried out in these two cell models by immunofluorescence technique.</p><p><b>RESULTS</b>The aggregates formed by EGFP-(R127W)HSPB1 predominantly located around the nucleus, and EGFP-(wt)HSPB1 showed diffusion pattern in Hela cells. When co expressed with EGFP-(wt)HSPB1, NFL formed homogeneous structure in cytosol. When co-expressed with EGFP-(R127W)HSPB1, however, NFL had amorphous staining pattern predominantly consisting of NFL aggregates, and NFL co-localized with (R127W)HSPB1 in these aggregates.</p><p><b>CONCLUSION</b>The R127W mutant of HSPB1 may have reduced capacity to serve as a chaperone to prevent aggregate formation, and fail to correctly organize the neurofilament network. Dysfunction of the axon cytoskeleton and axon transport may be the primary mechanism of R127W mutation of HSPB1 in the pathogenesis of Charcot-Marie-Tooth disease.</p>

The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the effect of Charcot-Marie-Tooth 2L disease causing gene K141N mutation in heat shock protein B8 gene (HSPB8) on cell viability.</p><p><b>METHODS</b>By using liposome transfection technique, (wt)HSPB8, (K141N)HSPB8 eukaryotic expression vector and green fluorescent protein (GFP) vector were transfected into SHSY-5Y cell, respectively. Twenty-four hours later, the cells were treated with 44 degree centigrade lethal heat shock for 40 minutes. The relative viability of SHSY-5Y cells in each group was tested by using tetrazole blue colorimetric method (methyl thiazolyl tetrazolium, MTT).</p><p><b>RESULTS</b>There were significant differences among the light absorption value of GFP, pEGFP-(wt)HSPB8 and pEGFP-(K141N)HSPB8 transfected groups after heat shock (P<0.05), indicating that the relative viability of cells overexpressed with (wt)HSPB8 and (K141N)HSPB8 was different from that of control cells. The viability of cells overexpressing (wt)HSPB8 was highest, followed by cells overexpressed with (K141N)HSPB8. The viability of cells tranfected with GFP only was the lowest.</p><p><b>CONCLUSION</b>HSPB8 may play an important role in the protection of cells under lethal heat shock treatment, and the K141N mutation can impair the protective effect.</p>

Effect of health education on blood glucose level of patients undergoing renal transplantation / 中华健康管理学杂志

Objective To evaluate the effect of health education on blood glucose level in patients undergoing renal transplantation.Methods Two hundred and four patients who underwent renal transplantation were randomly assigned to the control group(n =102)and the intervention group(n =102).Participants of the control group received traditional health education,and those in the intervention group received general health education.Food intake,physical exercises.disease-related knowledge,treatment satisfaction,fasting plasma glucose and 2 h blood glucose were assessed at 6 months.Results Daily diet,physical exercises,disease-related knowledge,treatment satisfaction,and blood glucose control were significantly improved in the intervention group(all P＜ 0.05).Conclusion General health education may contribute to the control of hyperglycemia and improve long-term survival of renal transplantation receivera.

Fragile X-associated tremor/ataxia syndrome / 中华医学遗传学杂志

Fragile X-associated tremor/ataxia syndrome(FXTAS) is a neurodegenerative disease caused by FMR1 gene permutation(PM). The main clinical manifestations are intention tremor and/or ataxia, and the pathogenesis was related to RNA toxicity. In this paper, the research progress of clinical manifestatios, pathological characteristics, epidemiology and molecular mechanisms will be reviewed.

Establishment and application of an analytical method for PINK1 gene exon copy number / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP).</p><p><b>METHODS</b>Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls.</p><p><b>RESULTS</b>Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group.</p><p><b>CONCLUSION</b>An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.</p>

Research progress in roles of microRNA in polyglutamine diseases / 中华医学遗传学杂志

Polyglutamine (Poly Q) diseases are a group of neurodegenerative disorders, caused by the formation of PolyQ mutants due to trinucleotide repeats expansion in coding regions of disease-causing genes, which eventually lead to selective neuronal degeneration and death with unclarified pathogenesis. As a new type of genetic regulatory factor, microRNA (miRNA) plays an important role in modulating gene expression in eukaryote. During the recent years, more attention was paid to roles and related mechanism of miRNA involving in neurodegenerative disease, especially PolyQ diseases. This review is focused on research progress in roles of miRNA in the pathogenesis of PolyQ diseases.