Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Turner Syndrome
- Sponsor
- University of Aarhus
- Enrollment
- 5
- Locations
- 1
- Primary Endpoint
- DNA-methylations of CpG-islands
- Status
- Completed
- Last Updated
- 9 years ago
Overview
Brief Summary
The study aim is:
- To examine aortic tissue by light microscopy
- To examine aortic tissue by electron microscopy
- To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.
- To examine aortic tissue using biochemistry including proteomics.
- To establish the karyotype of fibroblasts with standard chromosome examination on 10 meta-phases as well as by fluorescent in situ hybridization (FISH) with probes covering the X and Y chromosome. Using the latter 200 meta-phases will be examined.
30 controls who did not die from aortic dissection or dilation will be recruited from The Department of Forensic Medicine at Aarhus University Hospital.
The investigators will subject samples of aortic tissue from women undergoing prophylactic aortic surgery due to either Marfan syndrome or bicuspid aortic valve to the same panel of examinations (except karyotyping). Lastly the investigators will compare the results from the three groups (Turner syndrome, Marfan syndrome and Bicuspid aortic valve).
Detailed Description
Turner syndrome is a congenital complete or partial lack of one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general.
Investigators
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
DNA-methylations of CpG-islands
Time Frame: Cross sectional
mapping DNA-methylations of CpG-islands
Histone modifications
Time Frame: Cross sectional
Permissive and repressive histone modifications on the X-chromosome
mRNA and non-coding RNAs
Time Frame: Cross sectional
Identification of the entire transcriptome including both mRNA and non-coding RNAs (lincRNA as well as miRNA)from the X-chromosome
Karyotyping by FISH and conventional karyotyping
Time Frame: Cross sectional
Proteomics
Time Frame: Cross sectional
Electron microscopic evaluation
Time Frame: Cross sectional