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Start arrow Zespoły neurologiczne arrow Zespół łamliwego chromosomu X

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Warszawa (PAP) - Gen odpowiedzialny za upośledzenie umysłowe dzieci z zespołem łamliwego chromosomu X jest związany z chorobą neurologiczną pojawiającą się u starszych mężczyzn - donieśli naukowcy za pośrednictwem serwisu "EurekAlert".

"Okazuje się, że jeden gen może powodować dwa zupełnie niezależne zespoły chorobowe, które dotykają dwie różne grupy wiekowe pacjentów" - mówi prowadzący badania prof. Paul Hagerman z Univeristy of California School of Medicine.

Jak tłumaczy badacz, odkryta niedawno u starszych mężczyzn choroba neurologiczna, która powoduje stopniowe niszczenie tkanki nerwowej mózgu i objawia się drgawkami, zaburzeniami równowagi i problemami z pamięcią, ma to samo podłoże genetyczne co zaburzenie rozwojowe o nazwie zespół łamliwego chromosomu X.

Przyczyną zespołu łamliwego chromosomu X i nowo opisanego schorzenia neurodegeneracyjnego są zmiany w genie FMR1 znajdującym się na chromosomie płciowym X. Nazwa zespołu łamliwego X wywodzi się od małego nietypowego przewężenia na tym chromosomie, które często pęka w trakcie przygotowywania chromosomów do analizy.

Zespół prof. Hagermana zaobserwował, że mężczyźni z chorobą mózgu powiązaną z wrażliwym chromosomem X mają liczne kuliste wtręty w komórkach nerwowych. Teraz naukowcy prowadzą dalsze badania, które mają wyjaśnić, z czego są złożone i z jakiego powodu powstają.

Według autorów, ta nowa odmiana degeneracji tkanki nerwowej może występować u jednego na 3 tys. mężczyzn. Dotychczas była opisywana jako "nietypowa choroba Parkinsona".

Jej objawy rozwijają się dopiero po 50. roku życia. Często mężczyźni nie zdają sobie sprawy, że są nosicielami zmiany genetycznej i przekonują się o tym dopiero, gdy zespół łamliwego X zostaje zdiagnozowany u wnuczka.

Naukowcy zaprezentowali swoje wyniki na dorocznym spotkaniu Amerykańskiej Akademii Neurologii w Honolulu.

Zespół łamliwego chromosomu X jest zaburzeniem rozwojowym, którego symptomy zaczynają pojawiać się w dzieciństwie. Jest to najczęściej występujące, po zespole Downa, upośledzenie umysłowe o podłożu genetycznym. Przyczyną są zmiany na chromosomie płciowym X, który u mężczyzn występuje tylko w jednej kopii. Oznacza to, że kobiety są najczęściej nosicielkami choroby, a przekazują ją synom. Ryzyko wystąpienia zespołu dotyczy jednego na 1,2 tys. mężczyzn i jedną na 2,5 tys. kobiet.

W 1991 roku odkryto, że przyczyną rozwoju choroby są zmiany w genie FMR1, którego funkcja nie została jeszcze dobrze poznana.

U mężczyzn schorzenie objawia się umiarkowanym lub silnym opóźnieniem rozwoju umysłowego, podczas gdy kobiety-nosicielki mogą przejawić najwyżej łagodne upośledzenie. Z kolei u niektórych mężczyzn z łamliwym X rozwój umysłowy może przebiegać zupełnie prawidłowo.

Osoby z zespołem łamliwego X mają wiele charakterystycznych cech fizycznych, jak odstające uszy, pociągłą twarz, duże jądra, płaskostopie i inne. Mają zaburzenia mowy, przejawiają też niektóre zachowania typowe dla osób z autyzmem, jak niewielki kontakt wzrokowy, mogą silnie gestykulować i mieć zaburzenia w odbiorze różnych bodźców zmysłowych. Objawy u chorych kobiet są zazwyczaj dużo mniej nasilone.

 

 

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