Epilepsy is a chronic brain dysfunction disease with complex and diverse causes, but 70%-80% of patients do not have obvious characteristic phenotypic symptoms. In order to provide precise treatment for epilepsy patients, research on the genetic pathogenic factors and pathogenesis of epilepsy has attracted much attention. Different types of epilepsy are constantly found to be closely related to mutations in specific genes, such as SCN1A, KCNA2, KCNT1, GABRA1, TSCs, CDKL5, and so on. Therefore, the development of broad-spectrum antiepileptic drugs is very difficult. However, plant-based drugs or functional ingredients derived from traditional medicinal herbs, such as cannabinol, aconitine, and dodecenal, will expand the development of safer and more effective anti epileptic drugs.
ObjectiveTo summarize the applications of Schwann cells (SCs), stem cells, and genetically modified cells (GMCs) in repair of peripheral nerve defects. MethodsThe literature of original experimental study and clinical research related with SCs, stem cells, and GMCs was reviewed and analyzed. ResultsSCs play a key role in repair of peripheral nerve defects; the stem cells can be induced to differentiate into SCs, which can be implanted into nerve conduits to promote the repair of peripheral nerve defect; genetically modified technology can enhance the function of SCs and different stem cells, which has been regarded as a new option for tissue engineered nerve. ConclusionAlthough great progress has been made in tissue engineered nerve recently, mostly limited to the experimental stage. The research of seed cells in application of tissue engineered nerve need be studied deeply.
The raging global epidemic of coronavirus disease 2019 (COVID-19) not only poses a major threat to public health, but also has a huge impact on the global health care system and social and economic development. Therefore, accelerating the development of vaccines and antibody drugs to provide people with effective protection and treatment measures has become the top priority of researchers and medical institutions in the field. At present, several vaccines and antibody drugs targeting SARS-Cov-2 have been in the stage of clinical research or approved for marketing around the world. In this manuscript, we summarized the vaccines and antibody drugs which apply genetic engineering technologies to target spike protein, including subunit vaccines, viral vector vaccines, DNA vaccines, mRNA vaccines, and several neutralizing antibody drugs, and discussed the trends of vaccines and antibody drugs in the future.
Objective To study the latest research progress of the formation mechanism of cholesterol stone disease and forming factors of cholesterol stone disease and to provide new theoretical level and develop a new development direction for guiding clinical application. Methods The related literatures at home and abroad were analyzed, compared and summarized, and the current relevant research dynamic of cholesterol stone disease was sketched. Results The formation of cholesterol gallstone is closely related to the abnormal levels of serum lipids metabolism, bacterial and viral infection, and the expression of genes related to cholesterol gallstone. Conclusions The formation of cholesterol calculus disease is a kind of interaction and intricate disease process involving of environmental factors, genetic factors, and biological factors. Although there has been a lot of blood lipid, protein correlation research with cholesterol stone, there are also many studies such as using gene transplantation and gene knockout, but gene technology of cholesterol stone disease diagnosis and treatment is expected to become the new hot research topic.
PURPOSE:To investigate mitochondrial DNA(mtDNA) of Leber's hereditary optic neuropathy(LHON). METHODS:Polymerase chain reaction(PCR)method was used to analyse mtDNA of 11 patients in a pedigree with LHON and 4 control subjects from none LHON pedigree. RESULTS:There was a loss of a restriction site for the restriction endonuclease SfaN.Ⅰin Ihe Patients with LHON. In this pedigree,maternal lineage was regarded a carrier of the pathogenic gene. CONCLUSIONS:The patients with Leber's hereditary optic neuropathy have a point mutation in mtDNA,which results in loss ol SfaN I endonuclease restriction site .and this change is one of mechanisms inducing this disaese. （Chin J Ocul Fundus Dis,1997,13: 27-29）
Objective To investigate the impact of genetic factors on mental health status in child and adolescent twins. Methods A total of 102 pairs of twins aged 6 to 16 years were recruited with the support from educational committees and schools. After the guardians of these twins had signed an informed consent form, the Chinese version growth and the state of health evaluation (Development and Well-Bing Assessment, DAWBA) were completed by the parents of these twins to investigate their mental health status. Buccal mucosa samples were collected from all twins for DNA extraction and zygosity identification test. Result A total of 102 pairs of twins were recruited, among whom 93 pairs finished the investigation, including 50 monozygotic pairs and 43 dizygotic pairs. The results of emotional symptoms and behavior symptoms and the impact of symptoms from the DAWBA screening questionnaire showed that the intrapair correlation coeficien of the emotional disorder and the oppositional/conduct disorder and the impact in monozygotic twins were more remarkable than those in dizygotie twins, including separation anxiety (MZ group correlation coefficient (r) = 0.821, Plt;0.01; DZ group r=0.348, Plt;0.01), generalized anxiety (MZ group r=0.546, Plt;0.01; DZ group r=0.309, Plt;0.01), a special terror symptoms (MZ group r=0.849, Plt;0.01; DZ group r=0.726, Plt;0.01 ), and oppositional defiant / conduct disorder (MZ group r=0.237, Plt;0.01; DZ group r=0.163, Plt;0.01), attention deficit - hyperactivity disorder (MZ group r=0.640, Plt;0.01; DZ group r=0.198, Plt;0.01), autistic symptoms (MZ group r=0.680, Plt;0.01; DZ group r=0.372, Plt;0.01). Conclusion Genetic factors play an important role in mental health status of child twins.
Objective To analyze the correlation between HLA-A and B genotypes and maculopapular exanthema (MPE) caused by Carbamazepine (CBZ) and Oxcarbazepine (OXC), and to explore the genetic risk factors of MPE. Methods Patients with MPE (rash group) and patients without MPE (non-rash group) after taking CBZ or OXC were retrospectively collected from January 2016 to October 2021 in the Second Affiliated Hospital of Guangzhou Medical University. DNA was extracted from peripheral blood. HLA-A and HLA-B alleles were sequenced by high resolution sequencing, and a case-control study was conducted to analysis the correlations between MPE and HLA genotypes. Results A total of 100 patients with CBZ-MPE, 100 patients with CBZ-tolerant, 50 patients with OXC-MPE, and 50 patients with OXC-tolerant were collected. There was no significant difference in age and sex between CBZ, OXC rash groups and non-rash groups The average latency of CBZ-rash group was (11.31±11.00) days and their average dosage was (348.46±174.10) mg; the average latency of OXC-rash group was (11.67±10.34) days and their average dosage was (433.52±209.22) mg [equivalent to CBZ (289.01±139.48 mg)], showing no significant difference in latency and dosage between CBZ and OXC (P>0.05). The positive rates of HLA-A*24:02 and A*30:01 in CBZ-rash group were 28% and 6%, respectively, which were significantly higher than those in CBZ-non rash group (16% and 0%, both P=0.04). The positive rate of HLA-B*40:01 in CBZ-rash group was 18%, which was significantly lower than that in CBZ-non rash group (40%, P<0.001). No association between HLA-A or B genotype and OXC-rash was found yet. When pooled, it was still found that the positive rates of HLA-A*24:02 and A*30:01 in the rash group were higher than those in the non-rash group, while the positive rate of HLA-B*40:01 in the rash group was lower than that in the non-rash group, and the difference was statistically significant (P<0.05). Conclusions HLA-A*24:02 and A*30:01 were associated with MPE caused by CBZ, and may be common risk factors for aromatic antiepileptic drugs.
Waardenburg syndrome is a rare genetic disease of auditory pigmentation. The main symptom is sensorineural hearing loss. Pigment disorders and other developmental defects in skin, hair, iris, fundus and other parts are specifically divided into four different subtypes, each of which corresponds to different pathogenic genes, which encode transcription factors and signaling molecules that play a key role in the development process of neural crest cells into melanocytes. Because there are multiple subtypes of Waardenburg syndrome, different subtypes exhibit different symptoms, signs and ocular manifestations. Patients with Waardenburg syndrome are often first treated in ENT head and neck surgery due to hearing loss. Lack of theoretical knowledge related to Waardenburg syndrome by ophthalmologists may lead to misdiagnosis or missed diagnosis. Although there are currently limited treatments for the disease, with the continuous development of gene therapy and hearing management methods, the future treatment prospects will be broader.
ObjectiveTo research the effect of recombinant adenovirus-bone morphogenetic protein 12 (Ad-BMP-12) transfection on the differentiation of peripheral blood mesenchymal stem cells (MSCs) into tendon/ligament cells. MethodsPeripheral blood MSCs were isolated from New Zealand rabbits (3-4 months old) and cultured in vitro until passage 3. The recombinant adenoviral vector system was prepared using AdEasy system, then transfected into MSCs at passage 3 (transfected group); untransfected MSCs served as control (untransfected group). The morphological characteristics and growth of transfected cells were observed under inverted phase contrast microscope. The transfection efficiency and green fluorescent protein (GFP) expression were detected by flow cytometry (FCM) and fluorescence microscopy. After cultured for 14 days in vitro, the expressions of tendon/ligament-specific markers were determined by immunohistochemistry and real-time fluorescent quantitative PCR. ResultsGFP expression could be observed in peripheral blood MSCs at 8 hours after transfection. At 24 hours after transfection, the cells had clear morphology and grew slowly under inverted phase contrast microscope and almost all expressed GFP at the same field under fluorescence microscopy. FCM analysis showed that the transfection efficiency of the transfected group was 99.57%, while it was 2.46% in the untransfected group. The immunohistochemistry showed that the expression of collagen type Ι gradually increased with culture time in vitro. Real-time fluorescent quantitative PCR results showed that the mRNA expressions of the tendon/ligament-specific genes (Tenomodulin, Tenascin-C, and Decorin) in the transfected group were significantly higher than those in untransfected group (0.061±0.013 vs. 0.004±0.002, t=-7.700, P=0.031; 0.029±0.008 vs. 0.003±0.001, t=-5.741, P=0.020; 0.679±0.067 vs. 0.142±0.024, t=-12.998, P=0.000). ConclusionAd-BMP-12 can significantly promote differentiation of peripheral blood MSCs into tendon/ligament fibroblasts and enhance the expressions of tendon/ligament-specific phenotypic differentiation, which would provide the evidence for peripheral blood MSCs applied for tendon/ligament regeneration.
Inherited eye disease is a heterogeneous group of eye disorders caused by genetic defects, which has many genetic characteristics, such as multiple inheritance modes and numerous gene variation types. Over the past few decades, genetic testing has improved significantly, with more and more known disease-causing gene variants identified. With the rapid development of high-throughput sequencing technology, clinical diagnosis and treatment of eye genetic diseases have been accelerated, and molecular diagnosis of eye genetic diseases has become an important step in accurate diagnosis and treatment. How to correctly select and evaluate each kind of genetic testing technology, reasonably standardize the use of genetic testing technology, and provide patients with more accurate genetic counseling are problem that clinicians need to seriously consider.