Matters of the heart: genetic and molecular characterisation of cardiomyopathies

Posafalvi, A., 2015, [Groningen]: University of Groningen. 278 p.

Research output: ThesisThesis fully internal (DIV)

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  • Title and contents

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  • Chapter 1

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  • Chapter 2

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  • Chapter 3.1

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  • Chapter 3.2

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  • Chapter 3.3

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  • Chapter 4.1

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  • Chapter 4.2

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  • Chapter 5

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  • Appendices

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  • Complete dissertation

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  • Propositions

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  • Anna Posafalvi
Cardiomyopathy is an insidious disease of the heart that can cause mild symptoms like dizziness and chest pain, but might result in irregular heart rhythm, and sometimes even heart failure or sudden cardiac death without any previous warning sign. This disease is largely influenced by heritable factors, and our aim was to gain more insight into the genetic causes of the disease.
We applied various DNA sequencing methods (determining the genetic code of certain genes or regions) to identify novel mutations in known genes as well as novel disease genes in currently unexplained families with a repeated history of the disease. We have shown that the production of incorrect forms of an important building block of the heart muscle machinery leads to pregnancy-related cardiomyopathy, while variants in the rod domain of a novel gene may increase the fragility of the protein complex that “glues” together neighbouring cardiac muscle cells, leading to arrhythmogenic cardiomyopathy. Moreover, in a newborn patient we identified increased oxygen radical levels due to a mutation to be the likely cause of the disease. From a diagnostic point of view, our panel of 55 known disease genes can be easily and reliably sequenced using our targeted sequencing method, which results in much improved diagnostic yield, facilitating the screening of healthy looking family members of patients to identify those who have a risk to develop the disease too.
Translated title of the contributionZaken van het hart: genetische en moleculaire karakterisatie van cardiomyopathieën
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
Award date20-Apr-2015
Place of Publication[Groningen]
Print ISBNs978-90-367-7767-4
Electronic ISBNs978-90-367-7766-7
Publication statusPublished - 2015

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