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NR 4-6/2009
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Aspekty genetyczne
zwyrodnienia plamki związanego z wiekiem
Genetic aspects of
age-related macular degeneration
Katarzyna Janik-Papis1,
Małgorzata Zaraś2, Anna Skłodowska2,
Magdalena Ulińska2, Anna I. Borucka2,
Janusz Błasiak1
1 Z Katedry Genetyki Molekularnej Uniwersytetu
Łódzkiego
Kierownik: prof. dr hab. Janusz Błasiak
2 Z Katedry i Kliniki Okulistyki II Wydziału
Lekarskiego Warszawskiego Uniwersytetu Medycznego
Kierownik: prof. dr. hab. n. med. Jerzy Szaflik |
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| Summary: |
Age-related macular
degeneration (AMD) is a progressive disease
characterized in macula photoreceptors degeneration that
leads to loss of central vision in elderly people,
especially in developed countries. Many environmental
and genetic factors have influence on the occurrence and
progression of AMD as well as its form: either dry or
exudative. Despite of the extensive research, etiology
and molecular background of AMD are poorly understood.
Due to advanced biochemical and biophysical techniques
some clinical aspects of AMD have been described in
details, however, the genetic basis of AMD is still
under investigation. The results of some research
indicate that the genes, which products may play a role
in the pathogenesis of AMD could be CFB, C2, CFHR1,
CFHR3, C3, ABCR, APOE, CCL2, CFH, CX3CR1, ERCC6, FSCN2,
HMCN1, HTRA1, LOC387715, PLEKHA1, TIMP3 and VEGF-A. The
variability of these genes, expressed by their
polymorphisms, may also contribute to thye occurrence
and progression of AMD. Studying of genetic aspects of
AMD many bring results playing a role in the prevention,
diagnostics and treatment of this disease. |
| Słowa kluczowe: |
degeneracja plamki, AMD,
czynniki genetyczne, polimorfizm. |
| Key words: |
age-related macular
degeneration, AMD, genetic factors, polymorphism. |
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