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Genetics of Inherited Muscle Disease

ABSTRACT:

The samples are drawn from a collection of patients with a heterogeneous set of neuromuscular disorders, including congenital muscular dystrophy, congenital myopathy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, and arthrogryposis, along with unaffected parents and siblings in some cases. The samples were collected by clinicians affiliated with the Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Australia. All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Agilent SureSelect Human All Exon Kit v2 and sequencing was performed on an Illumina HiSeq 2000.

PROVIDER: phs000655.v1.p1 | EGA |

REPOSITORIES: EGA

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Genetics of Inherited Muscle Disease

Project description:<p>The samples are drawn from a collection of patients with a heterogeneous set of neuromuscular disorders, including congenital muscular dystrophy, congenital myopathy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, and arthrogryposis, along with unaffected parents and siblings in some cases. The samples were collected by the following clinicians affiliated with the associated institutes: <ol> <li>Kathryn North and Nigel Clarke (Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Australia)</li> <li>Hanns Lochmuller and Kate Bushby (The Newcastle Muscle Centre, Newcastle University, UK)</li> <li>Peter Kang (Boston Children's Hospital)</li> <li>Carsten Bonnemann (National Institutes of Health, Bethesda, MD, USA)</li> <li>Nigel Laing (University of Western Australia)</li> </ol> </p> <p> All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Agilent SureSelect Human All Exon Kit v2 or Illumina's Rapid Capture Exome enrichment kit and sequencing was performed on an Illumina HiSeq 2000. In addition some samples were whole genome sequenced on Illumina HiSeq X Ten.</p>

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2015-01-20 | E-GEOD-43698 | biostudies-arrayexpress

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2016-04-28 | E-MTAB-4662 | biostudies-arrayexpress

Gene expression profile of human iPS cell-derived mesoangioblasts (HIDEMs)

Project description:Mesoangioblasts are stem/progenitor cells derived from a subset of pericytes expressing alkaline phosphatase. They have been shown to ameliorate muscular dystrophies (currently incurable diseases) in different animal models and are now undergoing clinical experimentation for Duchenne muscular dystrophy. We show here that patients affected by limb-girdle muscular dystrophy 2D (LGMD2D, characterized by M-NM-1-sarcoglycan deficit) have a reduction of this subset of pericytes and hence mesoangioblast could not be derived for cell therapy. Therefore, we reprogrammed LGMD2D fibroblasts and myoblasts to induced pluripotent stem cells (iPSCs) and developed a protocol for the derivation of mesoangioblast-like cells from them. These cells can be expanded and genetically corrected with a muscle-specific lentiviral vector expressing human M-NM-1-sarcoglycan. Upon transplantation into ad hoc generated M-NM-1-sarcoglycan-null immunodeficient mice, they generate myofibers expressing M-NM-1-sarcoglycan. This approach may be useful for muscular dystrophies that show a reduction of resident progenitors and provides evidence of pre-clinical safety and efficacy of disease-specific iPSCs. 9 samples analyzed: 3 WT HIDEMs, 3 Limb-girdle muscular dystrophy 2D (LGMD2D) HIDEMs and 3 WT adult skeletal muscle derived mesoangioblasts (controls).

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Homo sapiens

Project description:The Congenital Muscular Dystrophy Genotype and Phenotype Study

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Homo sapiens

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Project description:Cardiac resident stem/progenitor cells are intensively studied as a potential therapeutic tool for cardiomyopathies. While surface marker expression and ability to generate cardiomyocytes have been characterized in some detail for several types of these progenitors, little is known on how their cardiac differentiation is regulated. Beta sarcoglycan null (bSG KO) mice are a model for limb girdle muscular dystrophy type 2E (LGMD2E), and are characterized by muscular dystrophy and progressive dilated cardiomyopathy. In the present study we isolated and characterized cardiac progenitors (mesoangioblasts) from the small vessels of neonatal hearts bSG KO mice and unexpectedly observed that they differentiate spontaneously into skeletal muscle fibers both in vitro and when transplanted in regenerating muscles and infarcted hearts. The micro array data showed that dystrophic cardiac progenitor and myogenic cells (C2C12) share similar gene expression profile. Keywords: Beta sarcoglycan null mice, muscular dystrophy, cardiac mesoangioblasts, myogenic differentiation Biological triplicates of cardiac wild-type and dystrophic mesoangioblasts isolated from different heart region (atrium, ventricle, aorta) were compared. C2C12 cells were used as positive control for myogenic differentiation.

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