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SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda
Bertrand Favre1, Laure Plantard, Lorène Aeschbach
1Laboratory of Cutaneous Biology, Department of Dermatology, CHUV, Lausanne, Switzerland.
Abstract:
SLURP1 is a secreted member of the LY6/PLAUR protein family. Mutations in the SLURP1 gene are the cause of Mal de Meleda (MDM), a rare autosomal recessive genetic disease, characterized by inflammatory palmoplantar keratoderma. In this study, we have analyzed the expression of SLURP1 in normal and MDM skin. SLURP1 was found to be a marker of late differentiation, predominantly expressed in the granular layer of skin, notably the acrosyringium. Moreover, SLURP1 was also identified in several biological fluids such as sweat, saliva, tears, and urine from normal volunteers. In palmoplantar sections from MDM patients, as well as in their sweat, mutant SLURP1, including the new variant R71H-SLURP1, was either absent or barely detectable. Transfected human embryonic kidney 293T cells expressed the MDM mutant SLURP1 containing the single amino-acid substitution G86R but did not tolerate the MDM mutation W15R located in the signal peptide. Thus, most MDM mutations in SLURP1 affect either the expression, integrity, or stability of the protein, suggesting that a simple immunologic test could be used as a rapid screening procedure.
Insights
Mutations in the SLURP1 gene cause Mal de Meleda (MDM), a skin disease. This study shows SLURP1 protein is reduced in MDM patients, suggesting a potential diagnostic test.
Area of Science:
- Genetics
- Dermatology
- Biochemistry
Background:
- Mal de Meleda (MDM) is a rare genetic disorder causing palmoplantar keratoderma.
- SLURP1 (secreted LY6/PLAUR domain containing protein 1) is implicated in MDM pathogenesis.
- Understanding SLURP1 expression is crucial for MDM research.
Purpose of the Study:
- To analyze SLURP1 expression in normal and MDM skin.
- To investigate SLURP1 presence in biological fluids.
- To evaluate the impact of MDM mutations on SLURP1 protein.
Main Methods:
- Skin biopsy analysis from normal and MDM individuals.
- Detection of SLURP1 in sweat, saliva, tears, and urine.
- Cell transfection studies to assess mutant SLURP1 stability.
Main Results:
- SLURP1 is a late differentiation marker in normal skin, found in the granular layer and acrosyringium.
- SLURP1 is present in various bodily fluids of healthy volunteers.
- MDM patients exhibit absent or reduced SLURP1 in skin and sweat, including new variants like R71H-SLURP1.
- Certain MDM mutations (G86R) are expressed, while others (W15R) are not tolerated in transfected cells.
Conclusions:
- Most MDM-causing SLURP1 mutations impact protein expression, integrity, or stability.
- Reduced SLURP1 levels in MDM patients suggest potential for immunologic screening.
- Further research could validate SLURP1 as a diagnostic marker for Mal de Meleda.
