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Hache, Lauren Patricia (2009) INVESTIGATING THE DISEASE-CAUSING MUTATIONS IN DUCHENNE MUSCULAR DYSTROPHY. Master's Thesis, University of Pittsburgh. (Unpublished)

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Duchenne muscular dystrophy (DMD) is a progressive, degenerative muscle disease. It is caused by a large variety of mutations in the dystrophin gene. Studies of new therapies that are based on specific genotypes are generating a high level of interest among both researchers and patients. This investigation examines the mutations reported in patients with DMD by the large international academic research group, the Cooperative International Neuromuscular Research Group (CINRG). It also compares the types of mutations reported in two large mutation databases, Leiden DMD mutation database and the French Universal Mutation Database-Duchenne Muscular Dystrophy (UMD-DMD), to those reported in DMD patients from three CINRG studies. Diagnostic, strength, and medical history data were reviewed retrospectively for 374 DMD patients from 20 CINRG centers worldwide. The frequency of each type of mutation found in the CINRG data was compared with similar information abstracted from the Leiden and UMD-DMD mutation databases. On an exploratory basis, the distribution of DMD-causing lesions in the CINRG data was also compared to data from the patient registry, DuchenneConnect. The distribution of dystrophin mutations within the CINRG database is similar to the two large published databases and the patient registry data collection. The immediate results improve understanding of the many mutations in the dystrophin gene. These results suggest the need for more rigorous and harmonized genetic screening as well as the continued collection of global data in easily accessed, searchable databases. The results of this work have a public health importance because DMD is the most common form of muscular dystrophy. Furthermore, the creation and improvements to existing disease databases can advance the standard of care for all patients and families with muscular dystrophy over diverse geographies and cultures. Harmonization of mutation data collection for DMD studies will benefit clinical trials and ultimately enhance pairing of eligible patients to specific molecular-based treatments.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Hache, Lauren, laurenm80@gmail.comLPM6
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairGrubs, Robin Ergrubs@pitt.eduRGRUBS
Committee MemberFeingold, Eleanorfeingold@pitt.eduFEINGOLD
Committee MemberClemens, Paula Rpclemens@pitt.eduPCLEMENS
Date: 29 June 2009
Date Type: Completion
Defense Date: 31 March 2009
Approval Date: 29 June 2009
Submission Date: 7 April 2009
Access Restriction: 5 year -- Restrict access to University of Pittsburgh for a period of 5 years.
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: dystrophin gene; neuromuscular; genotype-phenotype; mutation databases
Other ID:, etd-04072009-163238
Date Deposited: 10 Nov 2011 19:34
Last Modified: 15 Nov 2016 13:38


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