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Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Marianna Paulis1,2, Lucia Susani1,2, Alessandra Castelli1,2

  • 1National Research Council (CNR)-IRGB/UOS, Milan, Italy.

Molecular Therapy. Methods & Clinical Development
|February 27, 2020
PubMed

Insights

Chromosome transplantation successfully corrected genetic defects in human stem cells. This groundbreaking technique offers a new therapeutic avenue for treating genetic disorders by replacing faulty chromosomes with healthy ones.

Area of Science:

  • Genetics
  • Molecular Biology
  • Stem Cell Research

Background:

  • Structural genetic disorders often involve large chromosomal abnormalities.
  • Current gene therapies are insufficient for correcting these complex mutations.
  • Chromosome transplantation (CT) offers a novel approach for complete chromosomal replacement.

Purpose of the Study:

  • To demonstrate the feasibility of chromosome transplantation (CT) in human cells.
  • To correct genetic defects in human induced pluripotent stem cells (hiPSCs) from Lesch-Nyhan disease patients.
  • To establish CT as a viable method for treating X-linked genetic disorders.

Main Methods:

  • Utilized hiPSCs derived from Lesch-Nyhan disease patients with a selectable HPRT gene mutation.
  • Employed an improved chromosome transfer system to introduce a normal exogenous X chromosome.
  • Monitored spontaneous loss of the extra sex chromosome in recipient cells.

Main Results:

  • Successfully achieved chromosome transplantation in hiPSCs, marking the first instance in human cells.
  • CT cells exhibited functional correction of the HPRT gene defect.
  • Transplanted cells retained pluripotency and differentiation capabilities.
  • Demonstrated selective advantage of corrected cells due to HPRT gene inactivation.

Conclusions:

  • Chromosome transplantation is a feasible and effective strategy for correcting genetic defects in hiPSCs.
  • CT can restore normal diploid status and cellular function without leaving procedural markers.
  • This approach holds significant promise for treating a range of X-linked disorders by correcting the underlying chromosomal defect.
Keywords:
chromosome transferchromosome transplantationgenetic therapygenomic disordersinduced pluripotent stem cells

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