Molecular biological study of the inherited and immunodermatological diseases
Informations
- Funding country
Hungary- Acronym
- -
- URL
- -
- Start date
- 2/1/2005
- End date
- 12/31/2008
- Budget
- 9,915 EUR
Fundings
| Name | Role | Start | End | Amount |
|---|---|---|---|---|
| Thematic Programme | Grant | 2/1/2005 | 12/31/2008 | 9,915 EUR |
Abstract
Darier and Hailey-Hailey diseases are rare autosomal dominant inherited skin diseases with typical symptoms, and associated neuropsychiatric problems. The mutation of ATPA2 gene and coded protein of SERCA2 was found in the background of DD. This protein is a P-type ATP-ase located in the sarcoplasmatic reticulum. The mRNA has two spliced variants, so the gene has two protein isoforms called SERCA2a and SERCA2b. The differences are the carboxi terminals and the tissue expressions. It is known that the Ca2+ in the citoplasm takes part in the differentiation of epidermal structures and in the celldifferentiation, this can explain the role of ATA2 gen in the pathogenesis of DD. The mutation of ATPC1 gene was found in the background of HHD with positional cloning. This protein is located in the Golgi apparat. Extrinsic and intrinsic atopic dermatitis are common diseases of childhood associated with other allergic diseases. Prevalence is continually arising in the world. Different genetical and environmental factors are found in the background of the pathogenesis. It is a clinical observation that severe atopic dermatitis can tarnsfom to cutan lymphoma in aldolescent. The real connection between these two entities are not revealed till today. There are some studies which could have found any connection with statistical methods between the two diseases.