SVIBOR - Project code: 3-01-046

MINISTRY OF SCIENCE AND TECHNOLOGY

Strossmayerov trg 4, HR - 10000 ZAGREB
tel.: +385 1 459 44 44, fax: +385 1 459 44 69
E-mail: ured@znanost.hr

SVIBOR

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Project code: 3-01-046


EPIDEMIOLOGY AND MOLECULAR BIOLOGY ON HEREDITARY DISORDERS OF KERATINIZATION IN CROATIA


Main researcher: KANSKY, ALEKSEJ (93955)


Assistants
Type of research: developmental
Duration from: 01/01/91. to 12/31/93.
Papers on project (total): 52
Papers on project quoted in Current Contents: 6
Institution name: Medicinski fakultet, Zagreb (108)
Department/Institute: Department of dermatology
Address: Šalata 4
City: 10000 - Zagreb, Croatia
Communication
Phone: 385 (0)41 452-333
Summary: Clinical and biochemical investigation on hereditary disorders of keratinization: hereditary keratodermas of palms and soles, ichthyosis, dyskeratosis follicularis, psoriasis vulgaris and actinic keratosis, so as in some seborrheic dermatoses. The investigation went in two directions: with epidemiological studies investigators established the prevalence of above mentioned diseases in Croatia, what is important for national pathology and health care planing. In most of these diseases the exact metabolic cause is not enough explained. Investigators still make efforts to classify the ichthyosis with biochemical analysis of skin surface lipids and skin scales. Biochemical analysis of keratins are made on two dimensional gel electrophoresis. Genetic molecular studies included DNA isolation from patients leukocytes, purification, restriction with endonucleases and investigation for fragment length polymorphism (RFLP) with radioisotope technique.

Keywords: Disorders of keratinization, heredity, epidemiology, Croatia, biochemical investigations, keratin, lipids, DNA.

Research goals: Epidemiological studies on hereditary disorders of keratinization in Croatia represent important contribution to national pathology and are useful for health care planing. Using the patients family trees together with clinical investigation of patients and their relatives will give the comprehension on mode of inheritance in various hereditar palmoplantar keratodermas (HPPK), Unna-Thost type, papulosa type, pachyonychia congenita, ichthyosis, dyskeratosis follicularis, psoriasis vulgaris and others. Some seborrheic dermatoses will be investigated too. Investigation on epidermal lipids metabolism should contribute to better understanding of pathogenesis in these diseases. Molecular genetic studies offer the best opportunity to gather new data necessary for a modern classification on hereditary disorders of keratinization. Investigation will include the study of restriction fragment length polymorphism (RFLP). Namely, RFLP could represent a genetic marker for certain disease. In families with hereditary disorders of keratinization patients leukocytes will be taken for DNA isolation, purification, restriction with endonucleases and investigation for fragment length polymorphism with radioisotope technique. Screening large families affected by HPPK for the presence of RFLP using the keratin cDNA probes suggests a possible way to define keratin gene associated polymorphism linked with inborn disorders of keratinization.

COOPERATION - PROJECTS


  1. Name of project: MHS JF 915 USA EPIDEMIOLOGY AND MOLECULAR BIOLOGY OF HEREDITARY PALMOPLANTAR KERATODERMAS
    Name of institution: MINISTRY FOR HUMAN SERVICES
    City: New York, USA

COOPERATION - INSTITUTIONS


  1. Name of institution: MEDICINSKI FAKULTET LJUBLJANA
    Type of institution: University/Faculty
    City: 61000 - Ljubljana, Slovenija
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