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REZUMAT
Stresul acut i cronic determin un impact negativ asupra sntii (n general) i sntii mintale (n special).
Binomul stres/vulnerabilitate iniiaz cascada etio-patogenic stres uzur mbtrnire polipatologie.
Genomica stresului demonstreaz importana vulnerabilitii n tulburrile anxioase i depresive la tineri. Gena
transportorului de serotonin (SERT, 5-HTT sau SLC6A4), gena receptorului de glucocorticoid (NR3C1), gena
IL-6 (InterLeukin-6), gena receptorului de Dopamin (DRD4), gena enzimei Monoaminoxidaza A (MAO-A)
determin vulnerabilitatea sau rezistena la distres. De aceea, genomica i medicina stresului capt un rol
esenial n sntatea public, sntatea mintal, medicina omului sntos, n psihoprofilaxia primar, medicina
de familie i medicina personalizat.
Cuvinte cheie: genomica i medicina stresului; binomul distres/vulnerabilitate; anxietate i
depresie; genele: SLC6A4, NR3C1, IL-6, MAO-A; medicina personalizat i de familie
ABSTRACT
Acute and chronic stress have a negative impact on health (in general) and mental health (in particular). The
stress/vulnerability binomial initiates the etiopathogenetic cascade stress impairment aging polypathology.
Stress genomics demonstrates the importance of vulnerability concept in anxiety and depression disorders in
young people. Serotonin transporter gene (SLC6A4), glucocorticoid receptor gene (NR3C1), IL-6 (Interleukin-6)
gene, dopamine receptor gene (DRD4), monoamine oxidase A enzyme (MAO-A) gene can cause vulnerability or
resistance to distress. Therefore, genomics and stress medicine hold an essential role in public health, mental
health, healthy human medicine, in primary prophylaxis of mental disorders, family medicine and personalized
medicine.
Key words: Genomics and stress medicine; distress/vulnerability binomial; anxiety and
depression; genes: SLC6A4, NR3C1, IL-6 gene, MAO-A gene; personalised and family medicine
STRES I VULNERABILITATE
Stres acut i stres cronic
Stresul (distresul) reprezint depirea resurselor capacitii de adaptare prin suprasolicitri
cerine mrite. Deoarece fiina uman este construit
ntr-un sistem bio-psiho-social, stresul afecteaz n
sens negativ tripla funcionalitate a persoanei. Dup
intensitate, durat i frecven, stresul devine
Adresa de coresponden:
Dr. Sorin Riga, Spitalul Clinic de Psihiatrie Prof. Dr. Al. Obregia, os. Berceni, Nr. 10, Bucureti
e-mail: D_S_Riga@yahoo.com
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GENOMICA STRESULUI
Vulnerabiliti genetice n stres
n studiile efectuate n urma cu cteva decade
s-a supraestimat relaia direct cauzal: anxietatea i
depresia sunt consecinele naturale ale evenimentelor stresante, cum ar fi concedierea, doliul, problemele din csnicie sau stresul experimentat n
copilrie. Cercetri recente privind impactul stresului asupra comportamentului iau n considerare
aciunea genelor implicate n sindromul general de
adaptare. Rezultatele aduc argumente obiective
privind relaia dintre factorii genetici i trsturi de
personalitate, comportament i dezvoltarea multor
afeciuni, att somatice, ct i psihiatrice.
Un model interesant de analiz interdisciplinar
este c genotipul unui individ modific probabilitatea
ca individul s fie expus unui mediu stresant (8).
Genele i mediul nu acioneaz independent, dar se
influeneaz reciproc. De fapt, individul i selecteaz de-a lungul vieii nivelul de stres la care se
expune i care depinde de mai muli factori, cum ar
fi personalitatea, consumul de droguri i alcool i
afeciunile psihiatrice. Rezultatele expunerii la stres
sunt n mare msur variabile de la individ la
individ, n funcie de diferii factori genetici, care
controleaz toate aceste aspecte. Studiile caz control i cele largi, efectuate pe gemeni, demonstreaz
asocieri ntre genele implicate n rspunsul la stres
i anxietate i depresie (9).
Diferenele individuale n reactivitatea la stres
constituie un mecanism important n conturarea
riscului pentru depresie. Deoarece stresul poate fi
compus din stresuri zilnice minore, Jacobs et al. (10)
au studiat reactivitatea emoional la stres n fluxul
vieii de zi cu zi i au examinat la ce nivel, diferenele
individuale n reactivitatea emoional pot s fie
explicate de factorii genetici i/sau experimentali.
Demonstrarea unei influene genetice asupra relaiei
dinamice ntre stresurile minore i rspunsul afectiv
n cursul vieii arat interaciunea gene mediu nconjurtor, care contribuie la riscul dezvoltrii de
tulburri legate de stres, cum este anxietatea.
Mult mai multe studii populaionale sunt necesare pentru a descrie relaiile complexe dintre
stres i simptomele psihiatrice, iar n acest proces
este posibil s fie identificate mult mai multe gene
candidat, care s fie examinate prin aceste metode
n populaie pentru a ncerca s se detecteze interaciunile gene mediu (11).
Rolul genelor n sindromul general de adaptare
este complex: genele implicate pot fi difereniate n
gene care codeaz reacia nervoas vegetativ de
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populaie, iar impactul lor asupra prezicerii modificrilor comportamentale necesit a fi n continuare
studiat, prin promovarea unei practici medicale
translaionale, cu mare impact n sntatea public
i, n particular, n sntatea psihic.
Genomica stresului relev vulnerabiliti individuale n dimensiune bio-psiho-social. Domeniul
reprezint o cale principal n cercetarea translaional, ca suport pentru profilaxia primar, sntatea mintal i medicina personalizat (32).
Sntatea public/sntatea mintal/medicina
omului sntos sunt n interdependen direct cu
medicina stresului. De aceea, n paralel cu diagnosticul, analiza i evaluarea binomului negativ,
entropic, etio-patogenic distres/vulnerabilitate, se
impune caracterizarea binomului pozitiv, antientropic, terapeutic anti-stres/rezisten (32).
n aceast strategie, genomica stresului capt
funcii multiple, de la scop (diagnostic vulnerabiliti), la metode de cercetare i la intervenii preventive-terapeutice de recuperare.
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