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1.
Chem Biol Drug Des ; 103(1): e14374, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37994213

RESUMO

Schizophrenia is a severe psychological disorder in which reality is interpreted abnormally by the patient. The symptoms of the disease include delusions and hallucinations, associated with extremely disordered behavior and thinking, which may affect the daily lives of the patients. Advancements in technology have led to understanding the dynamics of the disease and the identification of the underlying causes. Multiple investigations prove that it is regulated genetically, and epigenetically, and is affected by environmental factors. The molecular and neural pathways linked to the regulation of schizophrenia have been extensively studied. Over 180 Schizophrenic risk loci have now been recognized due to several genome-wide association studies (GWAS). It has been observed that multiple transcription factors (TF) binding-disrupting single nucleotide polymorphisms (SNPs) have been related to gene expression responsible for the disease in cerebral complexes. Copy number variation, SNP defects, and epigenetic changes in chromosomes may cause overexpression or underexpression of certain genes responsible for the disease. Nowadays, gene therapy is being implemented for its treatment as several of these genetic defects have been identified. Scientists are trying to use viral vectors, miRNA, siRNA, and CRISPR technology. In addition, nanotechnology is also being applied to target such genes. The primary aim of such targeting was to either delete or silence such hyperactive genes or induce certain genes that inhibit the expression of these genes. There are challenges in delivering the gene/DNA to the site of action in the brain, and scientists are working to resolve the same. The present article describes the basics regarding the disease, its causes and factors responsible, and the gene therapy solutions available to treat this disease.


Assuntos
Esquizofrenia , Humanos , Esquizofrenia/genética , Esquizofrenia/terapia , Esquizofrenia/metabolismo , Estudo de Associação Genômica Ampla , Variações do Número de Cópias de DNA , Encéfalo/metabolismo , Epigênese Genética , Polimorfismo de Nucleotídeo Único
2.
Curr Gene Ther ; 21(1): 23-42, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32811395

RESUMO

The technique of gene therapy, ever since its advent nearly fifty years ago, has been utilized by scientists as a potential treatment option for various disorders. This review discusses some of the major neurodegenerative diseases (NDDs) like Alzheimer's disease (AD), Parkinson's Disease (PD), Motor neuron diseases (MND), Spinal Muscular Atrophy (SMA), Huntington's Disease (HD), Multiple Sclerosis (MS), etc. and their underlying genetic mechanisms along with the role that gene therapy can play in combating them. The pathogenesis and the molecular mechanisms specifying the altered gene expression of each of these NDDs have also been discussed in elaboration. The use of gene therapy vectors can prove to be an effective tool in the field of curative modern medicine for the generations to come. Therefore, consistent efforts and progressive research towards its implementation can provide us with powerful treatment options for disease conditions that have so far been considered as incurable.


Assuntos
Sistemas de Liberação de Medicamentos , Edição de Genes/métodos , Regulação da Expressão Gênica , Terapia Genética , Vetores Genéticos , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/terapia , Doença de Alzheimer/genética , Doença de Alzheimer/terapia , Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/terapia , Humanos , Doença de Huntington/genética , Doença de Huntington/terapia , Doença dos Neurônios Motores/genética , Doença dos Neurônios Motores/terapia , Esclerose Múltipla/genética , Esclerose Múltipla/terapia , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/terapia , Doença de Parkinson/genética , Doença de Parkinson/terapia , Doenças Retinianas/genética , Doenças Retinianas/terapia
3.
Glob Chall ; 4(8): 1900080, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32782819

RESUMO

This article reports the thermoelectric-based solar energy harvesting. The effect of candle soot (CS) coating on solar energy harvesting potential of thermoelectric modules is studied. To compare the performance, uncoated/coated modules are exposed to solar radiations (through Fresnel lens) and the other side is kept at lower temperature using continuous water flow. Substantial enhancements in electrical outputs are observed due to CS coating on the upper surface of the thermoelectric module. The open-circuit voltage and short-circuit current across coated module improve more than six times in comparison to the uncoated module with maximum voltage and current reaching up to 1.5 V and 14 mA. Similarly, the generator can deliver a maximum power of 10 mW across a resistance of 50 Ω. Results indicate that the CS coating is an effective technique to improve the performance of thermoelectric materials for running sensors and other low-power electronic devices.

4.
Curr Protein Pept Sci ; 21(10): 965-977, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32538723

RESUMO

Locating remedies for Alzheimer's disease (AD) has been majorly restricted by the inefficiency to establish a definitive detection model for early-stage diagnosis of pathological events. This current lapse in AD diagnosis also limits the therapeutic efficiency of the drugs, which might have been effective if given at the earlier stages of the disease. The indicated situation directs towards the burgeoned need for an effective biomarker technique that will help in early detection of AD and would be imminently useful to facilitate improved diagnosis and stimulate therapeutic trials. Till date, the major biomarkers, specifically associated with AD detection, may help in determining the early-stage AD diagnosis and identifying alterations in the cellular proteome, offering deeper insight into disease etiology. Currently existing multidisciplinary clinical diagnosis of AD is a very tedious, expensive procedure and requires highly trained and skilled professionals who are rarely available outside the specialty clinics. Mutations in amyloid precursor protein (APP) or Presenilin 1 and 2 (PSEN1 and PSEN2) are some biomarkers acting as critical checkpoints for AD diagnosis. However, the presence of some associated biomarkers in cerebrospinal fluid (CSF) such as total-Tau (tTau), phosphorylated- Tau (pTau) 181 and Amyloid-ß (Aß) 1-42 using structural or functional imaging techniques is considered for confirmatory diagnosis of AD. Furthermore, the molecular diagnosis of AD incorporates various sophisticated techniques including immuno-sensing, machine learning, nano conjugation-based detections, etc. In the current review description, we have summarized the various diagnostic approaches and their relevance in mitigating the long-standing urgency of targeted diagnostic tools for detection of AD.


Assuntos
Doença de Alzheimer/genética , Precursor de Proteína beta-Amiloide/genética , Demência/genética , Testes Diagnósticos de Rotina , Proteômica/métodos , Proteínas tau/genética , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Precursor de Proteína beta-Amiloide/metabolismo , Biomarcadores/metabolismo , Demência/diagnóstico , Demência/metabolismo , Demência/patologia , Regulação da Expressão Gênica , Humanos , Imunoensaio , Neurogranina/genética , Neurogranina/metabolismo , Neurônios/metabolismo , Neurônios/patologia , Fosforilação , Presenilina-1/genética , Presenilina-1/metabolismo , Presenilina-2/genética , Presenilina-2/metabolismo , Transdução de Sinais , Proteínas tau/metabolismo
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