Core - Clinical Specimen and Data

Engle, Elizabeth C.

Abstract

The four projects in this Program Project share the common theme of characterizing and understanding normal and abnormal patterns of gene expression in developing muscle from the stem cell stage through to maturity. The Program PI?s have a long and extensive history of interaction and have exchanged ideas, biopsy samples, and other reagents over many years. This Program Project is designed to further strengthen these collaborations and to produce synergistic results that are beyond the scope of any one laboratory. The services of the Clinical Specimen and Data Core (Core B) will be one important means by which the Program Project will meet these goals. The techniques required to perform the Aims of this Core are standard within the laboratories of each PI. By centralizing these techniques, formalizing data and tissue collections, and developing a database within the Muscular Dystrophy Research Portal (MDRP), Core B will increase efficiency and provide standardization to the analysis of data for each Project and the Program overall. Toward this end, the Aims of Core B are designed to maximize efficiency and minimize both administrative and technical effort and expense.
Aim 1. Ascertain the Program Project patient and control participants and acquire the comprehensive clinical data, peripheral blood samples, and muscle tissue samples from both patients and controls (Projects served: 1, 2, 3, 4, Core C).
Aim 2. Catalogue and track all clinical (Aim 1) and diagnostic data (Aims 1 and 4) pertaining to patients and blood/tissue samples. Annotate and enter all data into the muscular dystrophy research portal (MDRP) (Projects served: 1, 2, 3, 4, Core C).
Aim 3. Prepare muscle tissue samples for gene expression analysis. Isolate mRNA and synthesize labeled cDNA/cRNA for hybridization to Affymetrix oligonucleotide and Genetic Microsystems cDNA arrays (Projects served: 1, 2, 3, Core C).
Aim 4. Isolate DNA from patient blood samples and provide selective verification of participant's disease mutations (Projects served: 1, 2, 3).

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Neurological Disorders and Stroke (NINDS)
• Type: Research Program Projects (P01)
• Project #: 1P01NS040828-01A1
• Application #: 6549656
• Study Section: National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
• Project Start: 2001-09-25
• Project End: 2006-08-31
• Support Year: 1
• Fiscal Year: 2001

Institution

• Name: Children's Hospital Boston
• DUNS #: 076593722
• City: Boston
• State: MA
• Country: United States
• Zip Code: 02115

Publications

Teo, Adrian Kee Keong; Lau, Hwee Hui; Valdez, Ivan Achel et al. (2016) Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia. Stem Cell Reports 6:357-67

Finkel, Richard S; McDermott, Michael P; Kaufmann, Petra et al. (2014) Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 83:810-7

Alexander, M S; Kawahara, G; Motohashi, N et al. (2013) MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation. Cell Death Differ 20:1194-208

Liadaki, Kalliopi; Casar, Juan Carlos; Wessen, McKenzie et al. (2012) ?4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. J Histochem Cytochem 60:31-44

Wu, Melissa P; Gussoni, Emanuela (2011) Carbamylated erythropoietin does not alleviate signs of dystrophy in mdx mice. Muscle Nerve 43:88-93

Alexander, Matthew S; Kawahara, Genri; Kho, Alvin T et al. (2011) Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle Nerve 43:741-50

Salajegheh, Mohammad; Pinkus, Jack L; Amato, Anthony A et al. (2010) Permissive environment for B-cell maturation in myositis muscle in the absence of B-cell follicles. Muscle Nerve 42:576-83

Salajegheh, Mohammad; Kong, Sek Won; Pinkus, Jack L et al. (2010) Interferon-stimulated gene 15 (ISG15) conjugates proteins in dermatomyositis muscle with perifascicular atrophy. Ann Neurol 67:53-63

Glover, Louise E; Newton, Kimberly; Krishnan, Gomathi et al. (2010) Dysferlin overexpression in skeletal muscle produces a progressive myopathy. Ann Neurol 67:384-93

Kojic, Nikola; Chung, Euiheon; Kho, Alvin T et al. (2010) An EGFR autocrine loop encodes a slow-reacting but dominant mode of mechanotransduction in a polarized epithelium. FASEB J 24:1604-15