Objective: To investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT).
Methods: DNA samples from 114 CMT probands were screened for mutations in HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families.
Results: One missense mutation C379T was detected in 4 autosomal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor.
Conclusion: To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Dual targeting of HSP90 and BCL-2 in breast cancer cells using inhibitors BIIB021 and ABT-263.
Breast Cancer Res Treat
January 2025
Rafet Kayış Faculty of Engineering, Department of Genetics and Bioengineering, Alanya Alaaddin Keykubat University, Antalya, Turkey.
Purpose: The incidence of breast cancer has been increasing in recent years, and monotherapy approaches are not sufficient alone in the treatment of breast cancer. In the combined therapy approach, combining two or three different agents in lower doses can mitigate the side effects on living cells and tissues caused by high doses of chemical agents used alone. ABT-263 (navitoclax), a clinically tested Bcl-2 family protein inhibitor, has shown limited success in clinical trials due to the development of resistance to monotherapy in breast cancer cells.
View Article and Find Full Text PDFIschemia-induced expression status of cofilin 1, CRSP2, HSP90, HSP27, and IL8 in epicardial adipose tissue and single cell transcriptomic profiling of stromal cells.
Biochem Cell Biol
December 2024
Department of Translational Research, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA.
Epicardial adipose tissue (EAT) is a rich source of EAT-derived stromal cells (EATDS), which possess regenerative potential. CRSP2, HSP27, IL8, HSP90, and Cofilin 1 were detected in the secretome of left ventricular stromal cells under ischemia challenge. However, the association of these genes in the EAT and EATDS remain understudied.
View Article and Find Full Text PDFThe Novel Direct AR Target Gene Annexin A2 Mediates Androgen-Induced Cellular Senescence in Prostate Cancer Cells.
Biochem Genet
November 2024
Institute of Human Genetics, Jena University Hospital, Am Klinikum 1, 07740, Jena, Germany.
Clinical trials for prostate cancer (PCa) patients have implemented the bipolar androgen therapy (BAT) that includes the treatment with supraphysiological androgen level (SAL). SAL treatment induces cellular senescence in tumor samples of PCa patients and in various PCa cell lines, including castration-resistant PCa (CRPC), and is associated with enhanced phospho-AKT levels. Using an AKT inhibitor (AKTi), the SAL-mediated cell senescence is inhibited.
View Article and Find Full Text PDFComparative Analysis of IMT-P8 and LDP12 Cell-Penetrating Peptides in Increasing Immunostimulatory Properties of HIV-1 Nef-MPER-V3 Antigen.
Protein Pept Lett
January 2025
Department of Hepatitis, AIDS and Blood-borne Diseases, Pasteur Institute of Iran. Tehran, Iran.
Background: There have been great efforts in vaccine design against HIV-1 since 1981. Various approaches have been investigated, including optimized delivery systems and effective adjuvants to enhance the efficacy of selective antigen targets. In this study, we evaluated the efficiency of IMT-P8 and LDP12 cell penetrating peptides in eliciting immune responses against HIV-1 Nef-MPER-V3 fusion protein as an antigen candidate.
View Article and Find Full Text PDFThe arylbipyridine platinum (II) complex increases the level of ROS and induces lipid peroxidation in glioblastoma cells.
Biometals
February 2025
Scientific, Educational and Innovative Center of Chemical and Pharmaceutical Technologies, Ural Federal University, 620002, Yekaterinburg, Russian Federation.
Here we present the biological properties of the arylbipyridine platinum (II) complex (arylbipy-Pt) and describe the potential mechanism of its antitumor action which differs from that of the well-known cisplatin. Leading to the oxidative stress and lipid peroxidation, the arylbipyridine platinum (II) complex showcases the significant cytotoxicity against the glioblastoma cells as shown by the MTT test. Using the 5-ethyl-2-deoxyuridine we study the proliferative activity of glioblastoma cells to affirm that arylbipyridine platinum (II) complex does not impede cell division or DNA replication.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!