Investigating disease mechanisms and cell therapy with pluripotent cells bearing FSHD mutations

Kyba, Michael and Bosnakovski, Darko and Dandapat, Abhijit and Darabi, Radbod (2009) Investigating disease mechanisms and cell therapy with pluripotent cells bearing FSHD mutations. In: FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2009 International Research Consortium & Research Planning, 9-10 Nov 2009.

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Abstract

There is currently no animal model bearing the actual FSHD mutation (D4Z4 contraction), and the lack of a suitable model system to study the effects of this mutation has severely hampered progress in understanding FSHD. In an effort to shed light on the disease mechanism and to speed a potential cell therapy, we have derived iPS cells from myoblast cultures taken from FSHD patients and controls. We present preliminary data on the differentiation of these cells through mesoderm and into muscle, and the expression of FSHD candidate genes along this developmental pathway. We compare these cells to mouse embryonic stem cells that we have engineered to carry FSHD mutation-bearing DNA constructs at a euchromatic site on the X chromosome and discuss the roadblocks to the application of iPS cells to cell therapy for FSHD.

Item Type: Conference or Workshop Item (Speech)
Subjects: Medical and Health Sciences > Basic medicine
Divisions: Faculty of Medical Science
Depositing User: Darko Bosnakovski
Date Deposited: 24 Jan 2014 11:37
Last Modified: 24 Jan 2014 11:37
URI: http://eprints.ugd.edu.mk/id/eprint/7048

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