Rozdíly v počtu CAG opakování mezi pohlavími a jejich korelace s klinickým obrazem u Huntingtonovy choroby

Cíle:
Huntingtonova choroba (HD) je dědičná neurodegenerativní porucha. Vztah mezi progresí příznaků a počtem CAG opakování u zmutovaného genu IT15 nebyl prozatím z hlediska pohlaví probádán. Cílem bylo zjistit všechny korelace mezi počtem trinukleotidových repeticí CAG u genu IT15 a věkem nástupu HD, symptomy a progresí nemoci, jakož i případné rozdíly mezi výsledky v závislosti na pohlaví.

Materiál a metodika:
41 pacientů (23 žen a 18 mužů) s mutací způsobující HD se podrobilo neurologickému hodnocení podle Jednotné hodnotící škály Huntingtonovy choroby (Unified Huntington’s Disease Rating Scale, UHDRS). Počet CAG repetic na exonu 1 genu IT15 byl stanoven metodou amplifikace DNA pomocí polymerázové řetězové reakce (PCR) a porovnáním výsledného produktu se standardní DNA.

Výsledky:
Signifikantní korelace mezi výsledky na škále UHDRS, počtem CAG opakování a časem propuknutí choroby byly objeveny pouze u žen. Korelace mezi počtem CAG opakování a věkem nástupu nemoci byla objevena jak u žen, tak u mužů.

Závěr:
Výsledky naznačují korelaci mezi klinickým stavem pacientek s HD a délkou CAG repetice. To by mohlo souviset s přítomností dalšího faktoru u žen.

Klíčová slova:
CAG trinukleotidová opakování – Huntingtonova nemoc – UHDRS – pohlaví

Autoři: D. Zielonka ¹; A. Niezgoda ²; M. Olejniczak ³; W. Krzyzosiak ³; J. Marcinkowski ¹; W. Kozubski ²
Působiště autorů: Department of Social Medicine, Poznan University of Medical Sciences, Poland ¹; Department of Neurology, Poznan University of Medical Sciences, Poland ²; Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences in Poznan, Poland ³
Vyšlo v časopise: Cesk Slov Neurol N 2008; 71/104(6): 688-694
Kategorie: Původní práce

Souhrn

Závěr:
Výsledky naznačují korelaci mezi klinickým stavem pacientek s HD a délkou CAG repetice. To by mohlo souviset s přítomností dalšího faktoru u žen.

Klíčová slova:
CAG trinukleotidová opakování – Huntingtonova nemoc – UHDRS – pohlaví

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