Zašto djeca Amiša iznenada umiru?

Prije nekih 15 godina obitelj Amiša koja je živjela na istoku SAD-a pogodila je neobjašnjiva tragedija – jedno od njihove djece je iznenada umrlo. Dijete se igralo i tračalo unaokolo, a onda se odjednom srušilo.

Samo nekoliko mjeseci kasnije, ista sudbina zadesila je još jedno njihovo dijete. Šest godina poslije, iznenada im je umrlo još jedno dijete, a dvije godine nakon toga još jedno.

Obdukcija nije otkrila nikakav jasan uzrok smrti. Sva su djeca bila zdrava, nisu imala nikakva očigledna oštećenja na srcu ili drugim vitalnim organima. Obitelj je pogodilo, kako su oni sami nazvali, “prokletstvo iznenadne smrti”, a medicinski istražitelji nisu mogli shvatiti što se zapravo dogodilo, piše Index.hr pozivajući se na CNN.

Provedena molekularna obdukcija

Nakon smrti prvih dvoje djece, liječnik koji je obavio obdukcije stupio je 2004. u kontakt s medicinskim stručnjacima istraživačkog centra Mayo, a koji se bave iznenadnim smrtnim slučajevima. Liječnici te medicinske klinike posumnjali su da bi uzrok smrti mogao biti gen RYR2 jer mutacije tog gena mogu uzrokovati srčanu aritmiju, napade ili čak iznenadno zatajenje srca.

Proveli su molekularnu obdukciju, odnosno genetsko testiranje, ali nisu otkrili mutacije tog gena.

Nakon toga je prošlo čitavo desetljeće, a u međuvremenu su kardiolozi i genetičari iz drugih dijelova SAD-a pokušavali analizirati krv drugih amiških obitelji čija su djeca također umrla iznenadnom smrću.

Ipak odgovoran kobni gen

Prošloga tjedna stručnjaci iz medicinskog centra Mayo došli su do pomaka u istraživanju tih oboljenja, a svoju studiju su objavili u časopisu JAMA Cardiology. Uz pomoć nove tehnologije koja nije postojala kada su u toj klinici prvi put radili molekularnu obdukciju tim je saznao da su neka djeca Amiša naslijedila iste genetske mutacije od oba roditelja. Od 23 djece s naslijeđenom mutacijom 18 ih je umrlo iznenadnom smrću.

Ispada da je ipak odgovoran gen RYR2  

“Konačno smo shvatili da je riječ o autosomno recesivnoj osobini gdje su nepovoljne mutacije dolazile od oba roditelja tako da su djeca naslijedila dvostruku dozu”, rekao je liječnik Michael Ackerman, voditelj laboratorija koji istražuje slučajeve iznenadne smrti u klinici Mayo.

“Da bi došlo do razine koja uzrokuje iznenadnu smrt, dijete mora naslijediti mutirani gen od oba roditelja, a šanse za to su 25 posto. Ovu obitelj kojoj je četvero djece umrlo zbog tog oboljenja zadesila je teška i nesretna sudbina“, dodao je.

Amiši su vjerojatno podložniji recesivnom nasljeđivanju jer su potomci malog broja predaka i skloni međusobnoj ženidbi.

22 thoughts on “Zašto djeca Amiša iznenada umiru?

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