Patients carrying mutation in gene encoding protein KLHL24 suffer from epidermolysis bullosa, a debilitating skin blistering disease, accompanied by abnormalities in skin appendages, such as loss of hair and abnormal nail growth. In our research we aim to understand the function of KLHL24 in different cell types constructing skin, primarily keratinocytes and dermal fibroblasts, and elucidate how this function is affected in the patients carrying KLHL24 mutation.
Impact
The underlying cause of skin pathologies in KLHL24 patients is not yet fully understood. Our group utilizes skin organoids generated from KLHL24 patient-derived hiPSCs to model the disease in a physiologically relevant 3D system and mimic the tissue’s architecture and function. We expect that newly gained insights into the endogenous role of KLHL24 in different skin cell types will accelerate epidermolysis bullosa research and thus lead to improved patients’ lives.
reNEW research
This work is a product of Dr. Karine Raymond’s Lab at the LUMC (reNEW Leiden node in the Netherlands). In Dr. Raymond’s Lab, hiPSC-derived skin organoids carrying patients’mutations and their isogenic (repaired) controls are regularly generated to model and investigate skin diseases.
Image description
In our image we can admire the architecture of developing skin. Skin organoid section depicts nuclei (blue), revealing a dense epidermis in the centre, which is underlined by dermal fibroblasts marked by PDGFRa (red) and rich in intermediate filament vimentin (magenta and green).
Credits
This image was obtained by Athina Patra (MSc Student) under the supervision of Veronika Ramovs (postdoc researcher) at Dr. Karine Raymond’s Lab at the LUMC, reNEW Leiden.