By a News Reporter-Staff News Editor at Gene Therapy Weekly -- Investigators discuss new findings in Biotechnology. According to news reporting originating in Trieste, Italy, by NewsRx journalists, research stated, "Antisense molecules are emerging as a powerful tool to correct splicing defects. Recently, we identified a homozygous deep-intronic mutation (F5 c.1296+268A >G) activating a cryptic donor splice site in a patient with severe coagulation factor V (FV) deficiency and life-threatening bleeding episodes."
The news reporters obtained a quote from the research from International Center for Genetic Engineering and Biotechnology, "Here, we assessed the ability of 2 mutation-specific antisense molecules (a morpholino oligonucleotide [MO] and an engineered U7 small nuclear RNA [snRNA]) to correct this splicing defect. COS-1 and HepG2 cells transfected with a F5 minigene construct containing the patient's mutation expressed aberrant messenger RNA (mRNA) in excess of normal mRNA. Treatment with mutation-specific antisense MO (1-5 mu M) or a construct expressing antisense U7snRNA (0.25-2 mu g) dose-dependently increased the relative amount of correctly spliced mRNA by 1 to 2 orders of magnitude, whereas control MO and U7snRNA were ineffective. derived megakaryocytes obtained by differentiation of circulating progenitor cells did not express FV, but became positive for FV at immunofluorescence staining after administration of antisense MO or U7snRNA. However, treatment adversely affected cell viability, mainly because of the transfection reagents used to deliver the antisense molecules."
According to the news reporters, the research concluded: "Our data provide in vitro and ex vivo proof of principle for the efficacy of RNA therapy in severe FV deficiency, but additional cytotoxicity studies are warranted."
For more information on this research see: Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation. Blood, 2013;122(23):3825-3831. Blood can be contacted at: Amer Soc Hematology, 2021 L St NW, Suite 900, Washington, DC 20036, USA. (American Society of Hematology - www.hematology.org/; Blood - bloodjournal.hematologylibrary.org/)
Our news correspondents report that additional information may be obtained by contacting F. Nuzzo, Int Center Genet Engn & Biotechnol, I-34012 Trieste, Italy. Additional authors for this research include C. Radu, M. Baralle, L. Spiezia, T.M. Hackeng, P. Simioni and E. Castoldi (see also Biotechnology).
Keywords for this news article include: Antisense Technology, Biotechnology, Italy, Europe, Trieste, Therapy, Treatment, Bioengineering
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