The purpose of this study is to investigate the genetic architecture of Linear Localized Scleroderma (LLS) (linear morphea) by whole exome sequencing.
At present the etiology of LLS is unknown, but a genetic background is suspected. Although LLS clearly classifies as a mosaic disorder, its genetics and protein machinery remain to be understood. We are going to use a tailored approach to identify the genetic factors of LLS. In the first phase of the study we will investigate the genetic architecture in LLS. WES will analyze whole protein coding DNA in skin samples of 50 consenting LLS patient. The aim is to identify the key genes associated with LLS. In the second phase of the study subsequent functional experiments will be performed. Based on the identified candidate genes, knockdown and overexpression models will be created with relevant cell lines (fibroblasts) to identify the biological consequences and confirm the functional relevance of the identified genetic mutations in LLS. Further the protein network active in LLS will be investigated (proteomic analysis). The described basic genetic studies combined with functional experiments will lay the groundwork for treatment trials to provide possibly novel treatment options.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
50
University Children's Hospital, Department of Pediatric Dermatology
Zurich, Switzerland
University Hospital, Department of Dermatology
Zurich, Switzerland
number of key genes /number of mutations in LLS (localized linear scleroderma)
Time frame: 24-30 months
the investigation of the protein network of the identified key genes in order to assess their biological function and their relevance in the pathogenesis of LLS.
Time frame: 24-30 months
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