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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...
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Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
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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...
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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.
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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Un marco para la terapia individualizada con oligonucleótidos de conmutación de empalme

Jinkuk Kim1,2,3,4, Sijae Woo5, Claudio M de Gusmao6,7

  • 1Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.

Nature
|July 12, 2023
PubMed
Resumen

La secuenciación de todo el genoma identificó a individuos con enfermedades genéticas, como la ataxia-telangiectasia, susceptibles a los oligonucleótidos antisentido de conmutación de empalme (ASO). Estos ASO corrigieron con éxito los defectos de empalme en las células de los pacientes y mostraron seguridad en un ensayo clínico.

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Área de la Ciencia:

  • La genética
  • Biología molecular
  • Medicamentos para la salud

Sus antecedentes:

  • Las enfermedades genéticas plantean desafíos para las terapias dirigidas.
  • La identificación de individuos adecuados para la terapia de conmutación de empalme con oligonucleótidos antisenso (ASO) requiere un análisis genético avanzado.
  • La ataxia-telangiectasia es un trastorno genético recesivo grave y potencialmente mortal.

Objetivo del estudio:

  • Identificar sistemáticamente a las personas con enfermedades genéticas, específicamente ataxia-telangiectasia, que son candidatas para la terapia de conmutación de empalme ASO.
  • Desarrollar y validar un modelo predictivo para la adaptabilidad de ASO.
  • Demostrar la eficacia y seguridad de los ASO en entornos preclínicos y clínicos.

Principales métodos:

  • Secuenciación de todo el genoma de 235 individuos con ataxia-telangiectasia.
  • Desarrollo de una taxonomía predictiva para la capacidad de modulación de empalme de ASO.
  • Diseño y ensayo de ASO con conmutación de empalme en fibroblastos derivados de pacientes.
  • Estudio clínico piloto de un ASO en un paciente pediátrico.

Principales resultados:

  • Logrado un diagnóstico molecular casi completo para todos los participantes.
  • Se identificaron el 9% y el 6% de individuos con variantes "probablemente" o "posiblemente" susceptibles al tratamiento con ASO, respectivamente.
  • Desarrolló ASOs que corrigieron defectos de empalme y restauraron la señalización ATM en las células del paciente.
  • Se ha demostrado una buena tolerabilidad y seguridad de un ASO en un estudio clínico piloto de tres años.

Conclusiones:

  • La secuenciación de todo el genoma combinada con el modelado predictivo puede identificar pacientes para la terapia ASO.
  • Las variantes intrónicas profundas, a menudo pasadas por alto por otros métodos, pueden ser objeto de ASOs.
  • Este estudio proporciona un marco para la identificación prospectiva de pacientes que se benefician de tratamientos basados en ASO para trastornos genéticos.