Jove
Visualize
Contáctanos
JoVE
x logofacebook logolinkedin logoyoutube logo
ACERCA DE JoVE
Visión GeneralLiderazgoBlogCentro de Ayuda JoVE
AUTORES
Proceso de PublicaciónConsejo EditorialAlcance y PolíticasRevisión por ParesPreguntas FrecuentesEnviar
BIBLIOTECARIOS
TestimoniosSuscripcionesAccesoRecursosConsejo Asesor de BibliotecasPreguntas Frecuentes
INVESTIGACIÓN
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchivo
EDUCACIÓN
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualCentro de Recursos para ProfesoresSitio de Profesores
Términos y Condiciones de Uso
Política de Privacidad
Políticas

Videos de Conceptos Relacionados

Psychological and Sociocultural Causes of Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

838
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
838
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

109
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
109
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

2.4K
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
2.4K
Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

1.0K
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
1.0K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.2K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.2K
Complement System01:27

Complement System

12.4K
The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a...
12.4K

También podría leer

Artículos Relacionados

Artículos vinculados a este trabajo por autores compartidos, revista y gráfico de citas.

Ordenar por
Same author

iAstrocytes model cytokine influences on complement expression and neuronal network synchronization.

bioRxiv : the preprint server for biology·2026
Same author

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.

medRxiv : the preprint server for health sciences·2026
Same author

Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk.

Nature communications·2026
Same author

Protein-guided RNA barcoding links transcriptomes to synaptic architecture.

bioRxiv : the preprint server for biology·2026
Same author

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

medRxiv : the preprint server for health sciences·2026
Same author

Engulfment by brain macrophages in a short-lived vertebrate.

bioRxiv : the preprint server for biology·2026

Video Experimental Relacionado

Updated: Mar 26, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K

Riesgo de esquizofrenia por variación compleja del componente del complemento 4

Aswin Sekar1,2,3, Allison R Bialas4,5, Heather de Rivera1,2

  • 1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.

Nature
|January 28, 2016
PubMed
Resumen
Este resumen es generado por máquina.

Las variaciones genéticas en los genes del componente del complemento 4 (C4) están vinculadas a la esquizofrenia. Una mayor expresión de C4A se correlaciona con el riesgo de esquizofrenia, lo que sugiere que la actividad excesiva del complemento contribuye a esta enfermedad cerebral.

Más Videos Relacionados

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.9K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K

Videos de Experimentos Relacionados

Last Updated: Mar 26, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.9K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K

Área de la Ciencia:

  • La neurociencia
  • La genética
  • Inmunología

Sus antecedentes:

  • La esquizofrenia es un trastorno cerebral hereditario con causas poco conocidas.
  • El locus del complejo mayor de histocompatibilidad (MHC) muestra el vínculo genético más fuerte con la esquizofrenia.
  • La identificación de genes y mecanismos específicos dentro del locus MHC ha sido difícil.

Objetivo del estudio:

  • Investigar el papel de los genes del componente del complemento 4 (C4) en la patogénesis de la esquizofrenia.
  • Para determinar cómo las variaciones del gen C4 influyen en la expresión de C4A y C4B en el cerebro.
  • Explorar las consecuencias funcionales de C4 en el desarrollo neuronal y la regulación de las sinapsis.

Principales métodos:

  • Análisis de diversos alelos del gen del componente del complemento 4 (C4).
  • Cuantificación de la expresión génica C4A y C4B en el tejido cerebral.
  • Estudios de localización de la proteína C4 humana en las estructuras neuronales.
  • Investigación experimental de la función C4 en la eliminación de sinapsis en un modelo de ratón.

Principales resultados:

  • Las variaciones estructurales en los genes C4 contribuyen a la asociación de la esquizofrenia.
  • Los alelos C4 exhiben una expresión diferencial de C4A y C4B en el cerebro.
  • Los niveles más altos de expresión de C4A se correlacionan con un mayor riesgo de esquizofrenia.
  • La proteína C4 se encuentra en las sinapsis neuronales, y C4 media la eliminación de la sinapsis en ratones.

Conclusiones:

  • La actividad excesiva del sistema del complemento, impulsada por variaciones del gen C4, está implicada en el desarrollo de la esquizofrenia.
  • Los hallazgos proporcionan un mecanismo molecular que vincula la genética MHC con la esquizofrenia.
  • La reducción de la densidad sináptica en la esquizofrenia puede estar relacionada con la eliminación aberrante de la sinapsis mediada por C4.