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NR 1-3/2005
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Pod³o¿e genetyczne
czerniaka z³o¶liwego b³ony naczyniowej oka
Genetic abnormalities
underlying formation of choroidal melanoma
Ewa Proniewska-Skrêtek, Ma³gorzata Wojnar,
Zofia Mariak, Renata Zalewska
Z Kliniki Okulistyki Akademii Medycznej w Bia³ymstoku
Kierownik: dr hab. n. med. Zofia Mariak |
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| Summary: |
Genetic mechanisms
underlying formation of ocular and skin melanoma differ
in many aspects, the former being still poorly
understood. It has been suggested that chorioidal
melanoma can develop due to accumulation of genetic
alterations in the DNA of normal melanocytes.
Neoplasmatic transformation in the chorioidea can be
triggered as a consequence of the following genetic
alterations:
– deletions and/or amplifications in the genetic
material, usually in the chromosome 3, 6, 8, 9, 11, and
18;
– point mutations, especially within some egzones, which
leads to monosomia or loss of heterozygosity of the
chromosome.
As a consequence of the above alterations a number of
false codons can appear resulting in formation of
defective enzymatic proteins. Some of these proteins,
like p16 and p14, normally play a role of supressors of
oncogenesis and defects in their structure may result in
melanoma formation. |
| S³owa kluczowe: |
czerniak b³ony
naczyniowej, genetyka. |
| Key words: |
melanoma malignum
choroideae, genetics. |
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