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1.
Mol Neurobiol ; 60(11): 6201-6211, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37436601

RESUMO

As in many biological processes, the long non-coding RNAs (lncRNA) are currently known to have important roles in Parkinson's disease (PD). The aim of the study is to evaluate differentiated expressions of lncRNAs and their target mRNAs in the peripheral blood cells of individuals with Parkinson's disease. The peripheral blood samples were taken from 10 Parkinson's diagnosed people aging 50 years and more and from 10 healthy people as for the control group. Total RNA was isolated from peripheral blood mononuclear cells (PBMC), and a total of 5 samples were selected and evaluated by microarray analysis. lncRNAs with high fold change (fc < 1.5/fc > 1.5) were determined as a result of the analysis. Following this, the expression changes of some lncRNAs and their target mRNAs were examined by quantitative simultaneous polymerase chain reaction (qRT-PCR) in all individuals in the patient and control groups. Also, in order to determine the molecular level basic activities of lncRNAs determined by microarray analysis and which biological process and biochemical pathway they were in, Gene Ontology (GO) analysis ( http://geneontology.org/ ) database was used. Thirteen upregulated and 31 downregulated lncRNAs whose expression changes were determined by microarray analysis and confirmed by qRT-PCR method were found in Parkinson's patients. As they were evaluated by GO analysis, lncRNAs were expressed differently in patient and control groups and they are found to be related with the processes such as macromolecule metabolic processes, immune system, gene expression, cell activation, ATPase activity, DNA packaging complex, signal receptor activity, immune receptor activity, and protein binding were found to be significant.


Assuntos
Doença de Parkinson , RNA Longo não Codificante , Humanos , RNA Longo não Codificante/metabolismo , Doença de Parkinson/genética , Doença de Parkinson/metabolismo , Perfilação da Expressão Gênica/métodos , Leucócitos Mononucleares/metabolismo , Reação em Cadeia da Polimerase , RNA Mensageiro/metabolismo
3.
Mol Neurobiol ; 57(12): 5352-5361, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32885358

RESUMO

Long non-coding RNAs (lncRNAs) are involved in many neurological conditions, and neurodegenerative disorders including Alzheimer's disease (AD) regulate gene expression at transcriptional, post-transcriptional, and epigenetic levels. However, the roles of lncRNAs in the pathogenesis of AD remain unclear. In this study, we aimed to determine the expression of lncRNAs and also mRNAs in AD which may alter expression and contribute to the pathogenesis of the disease. Peripheral blood samples were obtained from patients admitted to the Neurology Department of Pamukkale University Medical Faculty (23 patients with AD, 33 control groups). Total RNA obtained from peripheral blood mononuclear cells (PBMC) of subjects with probable AD (n = 4) and healthy control groups (n = 4) was examined to determine the altered expression of lncRNAs and mRNAs in AD were evaluated by microarray analysis. Five lncRNAs with the highest end-to-end fold change (fc ≥ 2.0, p < 0.05) were identified and confirmed by quantitative real-time polymerase chain reaction (qRT-PCR). In our study, the profiles of lncRNAs and mRNAs that may be associated with Alzheimer's disease were determined. A total of 14 lncRNAs and 35 mRNAs were determined as upregulated, and 20 lncRNAs and 73 mRNAs determined as downregulated as a result of microarray analysis in patients with AD compared with control groups (fold change ≥ 2.0, p < 0.05). From lncRNAs, expression of lncRNA TTC39C-AS1, lnc-AL445989.1-2, LINC01420, lnc-CSTB-1, and LOC401557 was confirmed by qRT-PCR. When assessed by KEGG analysis of AD PBMC lncRNA and mRNA profiles, TNF signaling pathway, PI3K/AKT, Ras, and MAPK pathways; glutamatergic, dopaminergic, and cholinergic synapses; GABA, and neurotrophin signaling pathways are found to be significant. This is the first known study to investigate lncRNA profiles in AD PBMCs. We think that these results may open a door to the understanding of AD pathogenesis targeted by lncRNAs.


Assuntos
Doença de Alzheimer/sangue , Doença de Alzheimer/genética , Regulação da Expressão Gênica , Leucócitos Mononucleares/metabolismo , RNA Longo não Codificante/sangue , RNA Longo não Codificante/genética , Idoso , Idoso de 80 Anos ou mais , Análise por Conglomerados , Feminino , Perfilação da Expressão Gênica , Ontologia Genética , Genoma Humano , Humanos , Masculino , Pessoa de Meia-Idade , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Reprodutibilidade dos Testes
4.
Gene ; 714: 143955, 2019 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-31326549

RESUMO

AIM: MYC deregulation contributes to breast cancer development and progression. Deregulated expression levels of long non-coding RNAs (lncRNA) have been demonstrated to be critical players in development and/or maintenance of breast cancer. In this study we aimed to evaluate lncRNA expressions depending on MYC overexpression and knockdown in breast cancer cells. MATERIALS AND METHODS: Cells were infected with lentiviral vectors by either knockdown or overexpression of c-MYC. LncRNA cDNA was transcribed from total RNA samples and lncRNAs were evaluated by qRT-PCR. RESULTS: Our results indicated that some of the lncRNAs having tumor suppressor (GAS5, MEG3, lincRNA-p21) and oncogenic roles (HOTAIR) are regulated by c-MYC. CONCLUSION: We observed that c-MYC regulates lncRNAs that have important roles on proliferation, cell cycle and etc. Further studies will give us a light to identify molecular mechanisms related to MYC-lncRNA regulatory pathways in breast cancer.


Assuntos
Neoplasias da Mama/genética , Proteínas Proto-Oncogênicas c-myc/genética , RNA Longo não Codificante/genética , Neoplasias da Mama/patologia , Carcinogênese/genética , Linhagem Celular Tumoral , Proliferação de Células/genética , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Células MCF-7 , Oncogenes , Proteínas Proto-Oncogênicas c-myc/biossíntese
5.
Anticancer Res ; 35(9): 4807-12, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26254371

RESUMO

AIM: The aim of the present study was to investigate the association between Paraoxonase 1 (PON1) gene polymorphisms Q192R, and L55M in patients with Chronic Myelogenous Leukemia (CML) and Chronic Lymphocytic Leukemia (CLL) patients. MATERIALS AND METHODS: We analyzed samples from 60 patients with CML, 60 with CLL and 84 healthy controls. Polymerase Chain Reaction (PCR)--Restriction Fragment Length Polymorphism (RLFP) was performed and samples were run in agarose gel. RESULTS: We found statistically significant results showing an increase in both the RR genotype (p=0.044) and the R allele (p=0.011) for PON1 Q192R, and an increase in the MM genotype (p=0.007) and a decrease in the LL genotype (p=0.004) and R allele (p=0.001) in PON1 L55M in patients with CLL. CONCLUSION: We concluded that both the Q192R gene polymorphism with an increase in the genotype R allele, and the M/L55 with an increase in the MM genotype play a role in CLL susceptibility, and a decrease in the LL genotype can act against disease in the Turkish population.


Assuntos
Arildialquilfosfatase/genética , Predisposição Genética para Doença , Leucemia Linfocítica Crônica de Células B/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
6.
Public Health Genomics ; 12(4): 225-32, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19182476

RESUMO

INTRODUCTION: Nurses need to use genetic information in care; several areas of current need include primary care, public health, cardiovascular, geriatric and oncology nursing. Nursing faculties may be reluctant to add genetics to existing courses, let alone tackle the work of teaching an entire course in genetics. OBJECTIVES: The purpose of this study was to describe the current genetic knowledge of nursing students regarding genetics and genetic education. METHODS: This is a self-administered cross-sectional survey. A total of 162 of 209 nursing students returned a questionnaire. Data from the surveys reflect the students' self-reported knowledge regarding medical genetics (response rate = 77.5%). RESULTS: The majority of students noted 'some' to 'minimal' knowledge of Mendelian inheritance and human chromosome abnormalities. In terms of awareness of genetic abnormalities and disorders, students claimed to have 'high' knowledge of breast cancer, phenylketonuria, thalassemia, colon cancer, Rh factor, cleft lip/palate, hemophilia, color blindness, and polydactyly. Students stated that they would like to receive more education related to genetic diseases and genetic counseling (93.9%). CONCLUSIONS: The majority of students reported very little knowledge of genetics and genetic disorders. Most of students responded positively to all the education methods suggested in the questionnaire, adding that they would like more education about genetics. The results from this study may help to reform and upgrade the educational strategy concerning genetics in the Schools of Health.


Assuntos
Educação em Enfermagem , Genética Médica/educação , Estudantes de Enfermagem , Adulto , Estudos Transversais , Currículo , Feminino , Humanos , Masculino , Turquia
7.
Genet Med ; 9(2): 130-5, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17304055

RESUMO

PURPOSE: The purpose of this study was to assess the educational needs of physicians relating to genetics and genetic counseling in the Denizli region of Turkey. METHODS: Data were collected by questionnaire about physicians' approaches to genetics and genetic counseling. RESULTS: A total of 60 (60.0%) of 100 physicians working in Denizli province returned a questionnaire. Physicians described "their most knowledgeable subjects" in basic genetic information as chromosome abnormalities (41.8%), in genetic disorders as xeroderma pigmentosum (80.0%), and in genetic counseling as directing the parents of and couples with a risk for having a child affected by a genetic disease to an expert or a genetic counseling center (94.8%). Only 20.7% knew the ethical regulations and techniques related to genetic counseling. Physicians thought that they did not have sufficient knowledge about genetics or genetic counseling, and 83.9% would like to attend an educational course. CONCLUSIONS: As a result of this study, a genetics course is planned for physicians so they can actively participate in the prevention and early diagnosis of genetic diseases.


Assuntos
Atitude do Pessoal de Saúde , Aconselhamento Genético/métodos , Genética Médica/educação , Conhecimentos, Atitudes e Prática em Saúde , Médicos de Família/educação , Médicos de Família/psicologia , Adulto , Estudos Transversais , Feminino , Aconselhamento Genético/estatística & dados numéricos , Genética Médica/estatística & dados numéricos , Humanos , Masculino , Competência Profissional/estatística & dados numéricos , Inquéritos e Questionários , Turquia
8.
Tohoku J Exp Med ; 210(4): 321-32, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17146198

RESUMO

All over the world, the increased awareness of the importance of early diagnosis of genetic diseases has given them priority in primary health care. However, more recent surveys indicate that genetics content is still lacking in nursing curricula. This survey aimed to measure the current status of primary care nurses' knowledge about genetics and genetic counseling, and the educational needs of nurses related to human genetics in the Denizli region of Turkey. This area in western Turkey has an 11.7% rate of consanguineous marriages; about 3.5% of the population are hemoglobinopathies carrier and 3.2% are thalassemia carriers. Data were collected on forms that aimed to obtain information about nurses' approaches to genetics and genetic counseling. A total of 86 of 106 nurses working in Denizli province returned the questionnaire (response rate of 81.1%). Phenylketonuria, at 61.5%, and Cooley's anemia, at 60.0%, were identified as the subjects these nurses were most knowledgeable about in terms of genetic disorders. A high percentage of nurses admitted they had insufficient knowledge about the genetic basis of diseases (96.4%), inheritance patterns (98.9%), ethical and legal issues (100.0%), genetic counseling (100.0%), gene testing (95.9%), and genetic engineering (97.9%). About 67% of nurses stated they would like to attend a training course on these subjects. As a result of this study a genetics course is planned for nurses so they can actively participate in the prevention and early diagnosis of genetic diseases.


Assuntos
Aconselhamento Genético , Genética Médica , Conhecimentos, Atitudes e Prática em Saúde , Enfermeiras e Enfermeiros , Competência Profissional , Adulto , Educação Continuada em Enfermagem , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Pessoa de Meia-Idade , Turquia
9.
J Genet Couns ; 15(3): 191-8, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16680531

RESUMO

The purpose of this study was to evaluate Denizli midwives' self-reported knowledge of genetic diseases and genetic counseling. Data was collected on forms that obtained information about midwives approaches to basic genetics, genetic disorders, and genetic counseling (response rate = 70.1%). The highest response rate of midwives describing themselves as "knowledgeable" about basic genetic information was for mitosis and meiosis with 4.8%, about genetic disorders was for phenylketonuria with 61.1%, and about genetic counseling was for recommending ultrasonography during pregnancy with 98.1%. The source for basic genetics information for 56.4% of participants was in their school level classes. None of the midwives felt that they had sufficient knowledge about genetic counseling or screening and 76.4% would like to attend an educational course. Even though the midwives have recognized their knowledge deficit they occasionally give genetic counseling. As a result of this study a genetics course is planned for midwives so they can actively participate in the prevention and early diagnosis of genetic diseases.


Assuntos
Aconselhamento Genético , Doenças Genéticas Inatas/genética , Tocologia , Adulto , Atenção à Saúde , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Relações Enfermeiro-Paciente , Gravidez , Inquéritos e Questionários , Turquia
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