Cunoaștem 99% din genomul uman. Ce se ascunde însă în ultimul procent?

Himere… Una dintre cele mai recente peformanțe ale geneticii. Preluând termenul din mitologie, acestea sunt privite astăzi ca animale în care au fost „lipite” porțiuni din ADN-ul unui alt animal. La începutul lunii iunie, de ex., la Univ. Californiei de la Davis s-au obținut embrioni hibrizi om-porc. SF? Nu, în primul rând pentru că nimeni nu ar putea privind un asemenea porc să spună dacă este o himeră sau nu. Și atunci, de ce i-am face? Chiar dacă ridică multe și serioase probleme, răspunsul este simplu: avem din ce în ce mai multă nevoie de organe umane pentru transplant. Și atunci introducem celule stem de om în ADN-ul unui embrion de porc, „ștergem” codul genetic care ar dezvolta un anumit organ și …lăsăm celulele stem să-și urmeze drumul. Rezultatul va fi, de ex., un pancreas uman. Spuneam că apar mari probleme. Cele de etică sunt evidente. Cele …SF așteaptă și ele. Vă imaginați cum ar arăta o lume populată de… porci superdotați! Dar sunt și probleme tehnice, mai puțin spectaculoase dar la fel de grave: ce calitate va avea un organ crescut în acest fel? Va fi sau nu va fi funcțional organul transferat, chiar dacă din punct de vedere medical reprezintă o alegere bună? Ca să nu mai vorbim de pragul psihologic pe care va trebui să-l depășească persoana transplantată știind de unde provin organele care o mențin în viață! Și atunci, din nou: de ce o facem? Pentru că avem nevoie de organe. Atât de multă încât nu ne putem permite să nu experimentăm pentru a ști dacă astfel am putea sau nu să oferim o șansă în plus celor a căror viață atârnă de un fir de păr.

Și aici se mai deschide o discuție: ne cunoaștem foarte bine genomul nostru, dar nu chiar complet. Harta ultimului 1% din el încă ne lipsește…

Când în 2003 Human Genome Project a fost declarat complet, încheiat, s-a spus că am ajuns să știm genomul nostru „complet din aproape orice punct de vedere funcțional”. Alții au spus „cât de complet poate fi”. Ce mai rămăsese, 1%! Adică aproximativ 200-250 de gene din cele 20.000-25.000 câte există în genom. Geneticienii au încercat mereu de atunci să acopere și acest ultim procent, fără a reuși însă. Și fără a răspunde astfel la o ultimă întrebare decisivă: dacă aceste ultime gene „necunoscute” sunt totuși funționale? Joacă un rol pe care nu-l știm. Și astfel s-a ajuns să se ceară guvernelor și instituțiilor implicate în Proiectul inițial să… termine lucrul. Să decidă astfel dacă (și) aceste gene, încă necunoscute, sunt, în final, importante (poate chiar decisive) pentru sănătatea rasei umane.

Motivul pentru care nu am ajuns încă la finalizarea cartării Genomului Uman este, dacă vreți, unul tehnic. Pentru că este extrem de dificil, cu toată tehnologia și cu toate softurile de care dispunem, să urmărești și să controlezi teribile secvențe repetitive de „litere”, CAG, de ex. (Citozină-Adenină-Guanină) care apar în milioane de cuvinte din Genom. Probabil că cele mai multe dintre ele se află în centrul sau la extremitățile cromozomilor, între ceea ce se numesc centromeri și teleomeri („mănușile” care protejează capetele cromozomilor de deteriorare).
Și tocmai acestea sunt responsabile pentru o serie de boli. Între aceste secvențe repetitive din ultimul procent al Genomului se află gene care, în cea mai mare parte încă nu sunt descoperite. Ele nu se află încă în ceea ce numim „Geno-mul de referință”, pe care îl avem la dispoziție pentru a găsi motive genetice ale bolilor sau comportărilor noastre anormale. De aceea trebuie identificate și adăugate.

Și încă ceva, de o importanță covârșitoare: Natura nu face nimic degeaba. Nimic în Natură nu există fără niciun rost. Avem regiuni în Genom care se repetă – chiar dacă nu știm exact care sunt toate acestea – ele nu se află acolo doar întâmplător. Trebuie să existe o „funcționalitate” a lor, pe care trebuie să o descoperim.

***
Tehnologiile de secvențiere în genetică sunt astăzi mult superioare celor cu care s-a putut lucra acum 15 ani. De aceea finalizarea cartării genomului uman este nu doar obligatorie dar și posibilă. Sunt sau nu importante genele încă necunoscute? Nu știm, dar trebuie să aflăm. Dacă răspunsul va fi afirmativ, vom ști mai bine încotro să ne îndreptăm eforturile.
Dacă nu, ei bine, atunci va trebui să căutăm răspunsuri în altă parte. Pentru sănătatea noastră. Sunt atâtea lucruri pe care omul este chemat să le înțeleagă. Și despre Univers, și despre Pământ, și despre organismul și mintea noastră. Și aceasta nu se poate face cu oameni bolnavi. Mai mult decât în orice altă aventură omenească, aici găsim cea mai bună ilustrare a faptului că „Sănătatea contează” …

Prof. Dr. Andrei Dorobanțu, fizician

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