Cell therapy of a patient with type III osteogenesis imperfecta caused by mutation in COL1A2 gene and unstable collagen type I - Open Journal of Genetics

OJGen > Vol.3 No.1, March 2013

Cell therapy of a patient with type III osteogenesis imperfecta caused by mutation in COL1A2 gene and unstable collagen type I ()

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DOI: 10.4236/ojgen.2013.31006 3,810 Downloads 7,159 Views Citations

Author(s)

Marcin Majka, Magdalena Janeczko, Jolanta Goździk, Danuta Jarocha, Aleksandra Auguściak-Duma, Joanna Witecka, Marta Lesiak, Halina Koryciak-Komarska, Aleksander L. Sieroń, Jacek Józef Pietrzyk

Affiliation(s)

Department of Clinical Immunology, UJCM, Krakow, Poland.
Department of General and Molecular Biology and Genetics, Medical University of Silesia, Katowice, Poland.
Department of Pediatrics and Medical Genetics, Chair of Pediatrics, UJCM, Krakow, Poland.
Department of Transplantation, UJCM, Krakow, Poland.

ABSTRACT

The allogenic bone marrow derived mesenchymal stem cells transplantation was given to the newborn girl diagnosed with osteogenesis imperfecta type III, with multiple bone fractures, extreme shortness and limbs deformities. The treatment was performed at the age of 4 and 6 weeks. The clinical diagnosis was supported by biochemical analysis of collagen type I recovered from culture medium of cultivated patient’s skin fibroblast, which revealed its triple helix instability at temperature about 2?C lower than normal. Sequencing of both genes encoding procollagen type I revealed heterozygous substitution G23569Ain COL1A2 gene causing change of glycine at position 517 to aspartate. The donor of mesenchymal stem cells was the girl’s father. She received two intravenous infusions of suspended cultured mesenchymal cells in 16 days apart without any side effects. An analysis of procollagen type I secreted to the culture medium by bone marrow-derived mesenchymal stem cells obtained from the patient, 3 months following transplantation revealed its normal triple helix stability. During the subsequent two years of follow up two new bone fractures were noted. Currently a two-year-old girl’s presents extreme growth and weight deficiency. The motoric development is also retarded, but the patient constantly improves and makes progresses.

KEYWORDS

Bone Mineralisation; Cell Therapy; Collagen Type I; Osteogenesis Imperfecta; Triple Helix Stability

Share and Cite:

Majka, M. , Janeczko, M. , Goździk, J. , Jarocha, D. , Auguściak-Duma, A. , Witecka, J. , Lesiak, M. , Koryciak-Komarska, H. , Sieroń, A. and Pietrzyk, J. (2013) Cell therapy of a patient with type III osteogenesis imperfecta caused by mutation in COL1A2 gene and unstable collagen type I. Open Journal of Genetics, 3, 49-60. doi: 10.4236/ojgen.2013.31006.

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