Video Experimental Relacionado
Updated: Oct 26, 2025
10:06
Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
9.1K
Control regulado de las terapias génicas por empalme inducido por fármacos
Alex Mas Monteys1,2, Amiel A Hundley3, Paul T Ranum3
1Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. monteysam@chop.edu.
Nature
|July 29, 2021
Resumen
Un nuevo interruptor Xon ofrece un control preciso para las terapias génicas. Este sistema permite la activación de reemplazo o edición de genes a través de una pequeña molécula, mejorando la seguridad y eficacia en humanos.
Área de la Ciencia:
- Biología molecular
- Terapia génica
- Farmacología
Sus antecedentes:
- Las terapias génicas actuales carecen de un control fino sobre la expresión génica.
- Las complejas construcciones genéticas limitan la precisión y la seguridad terapéuticas.
Objetivo del estudio:
- Desarrollar un elemento de interrupción universal para el control preciso de la sustitución o edición de genes.
- Para permitir la expresión génica inducible por pequeñas moléculas en aplicaciones terapéuticas.
Principales métodos:
- Introducción del sistema de conmutación de Xón, que no requiere proteínas reguladoras coexpresadas.
- Administración de inductores de moléculas pequeñas biodisponibles para el control de la expresión génica.
- Regulación dosis-dependiente de la expresión de proteínas a través de la dosis del fármaco y la estabilidad de las proteínas.
Principales resultados:
- El interruptor Xon permite un control temporal preciso de la sustitución o edición de genes después de una dosis única de inductor oral.
- El sistema demostró robustez en el control de los niveles de expresión génica.
- Las moléculas pequeñas utilizadas son biodisponibles por vía oral y pueden llegar a diversos tejidos, incluido el cerebro.
Conclusiones:
- El interruptor Xon proporciona un control temporal sin precedentes sobre las terapias génicas.
- Su biodisponibilidad oral y su perfil de seguridad ofrecen aplicaciones refinadas en terapias humanas.
- El sistema es adaptable para la biología celular y los estudios en animales, ampliando su utilidad.
Videos de Conceptos Relacionados
01:36What is Gene Expression?
9.7K
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
9.7K
00:59Gene Therapy
26.2K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
26.2K
02:18Alternative RNA Splicing
22.4K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
22.4K
02:24Regulation of Expression Occurs at Multiple Steps
23.9K
Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
23.9K
01:23Regulation of Expression at Multiple Steps
1.1K
The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
1.1K
01:32RNA Splicing
58.0K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
58.0K