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Engrami
2015, vol. 37, br. 4, str. 5-26
Neurobihejvioralne karakteristike i ciljana terapija fragilnog X sindroma - današnje spoznaje i buduća usmerenja
Budimirović Dejan B., Duy Phan Q.
Fragile X Clinic Clinical Research Center, Kennedy Krieger Institute, the Johns Hopkins Medical Institutions N. Broadway, Rm, Baltimore, Maryland, USA

e-adresa: dbudimi1@jhu.edu
Ključne reči: fragilni X sindrom; autizam; monogenetski
Sažetak
Fragilni (krhki) deo X hromoyoma sindrom (FXS) je vodeci poznat monogenetski uzrok autističkog poremecaja spektra (ASD) i nasleđene forme intelektualne zaostalosti u razvoju (ID). Kao glavni i rastući javni zdravstveni problem u svetu, ASD je definisan kao čisto bihevioralni premećaj, dok je FXS medicinski / genetski poremecćaj koji je karakterističan po ID i ASD kod dečaka u učenju i ponašanju / emocionalnim problemima (socijalne anksioznosti, u rasponu pažnje) kod oba pola. FXS je uzrokovan mutacijom Fragilnog X Mentalnom Retardacijom 1 gena (FMR1) koji dovodi do epigenetskog gašenja gena i odsustva njegovog kodiranog proteina, Fragilnog X Mentalna Retardacija Proteina (FMRP). FMRP selektivno reguliše produkciju oko 4% transkribovane mRNK u mozgu. Naime, do sada, 842 takvih ciljnih mRNK u mozgu sisara su identifikovani i mnogi od njih se ukrštaju na istom putu kao i izgleda bar neke forme ASD. Tako je, FXS najviše proučavani 'poremećaj u okviru sinapse' model za sidromski (poznati uzrok) ASD u oblasti neuronauke, modela za sindromsku ASD u oblasti neuronauke. Trenutno ne postoje ciljani lekovi ni za FXS kao ni za ASD. U ovom članku, govorimo o nedavnom napretku i budućim pravcima u prevođenje vrlo značajnih za neuronauku prekliničkih dostignuća radi otkrivanja potencijalnih terapeutskih meta u kliničkim studijama za ljude sa FXS od potencijalnog značaja za ASD. Do sada je ukupno 20 dvostruko slepih, randomiziranih, placebo-kontrolisanih kliničkih studija sa FXS identifikovano putem sajta FDU ClinicalTrial.gov. Vecćina ovih ispitivanja su završena između 2008-2015. To su uglavnom faza II ispitivanja kod odraslih i adolescenata pri kojima je testirano 13 lekova i uglavnom su bile usmerene ka ekscitatornoj / inhibitornoj teoriji disbalansa FXS i ASD. Napredak je da su sržni simptomi socijalnog/behavioralnog ili ponašajnog karaktera u FXS modifikovani ali ne i sržni, najviše preokretima simptoma društvenih / ponašanja koji su deo osnovnog FXS fenotipa, ali nisu suština sinapsi disfunkcije kod FXS. Uprkos mnogim dostignućima u oblasti pokrenute velikih prekliničkim napretkom, te kliničke studije ilustruju nedostatke i izazove prevođenje terapije sa životinjskim modelima na ljude sa FXS i ASD ( 'izgradnju mosta i hod po njemu'). Naime, nedavno izazovi u kliničkim ispitivanjima ukazuju na potrebu da ove kliničke studije traju duži vremenski period (6-12 meseci), u prepubertetskoj starosnoj grupi (s) ili grupama, razviju objektivnije mere kliničkog ishoda (npr, zasnovane na lekaru, relevantne paradigme učenja, i željeni biomarkeri), i duže placebo faze da bi se sveo na minimum uticaj placeba za FXS i ASD. Na kraju krajeva, zaista zadovoljavajuća FXS i ASD terapija moraće da uključi kombinaciju lekova (i odgovarajućih testova i učenja), koji ciljaju različite aspekte tog sržnog nedostatka u okviru sinapse, učenja, i ponašanja u FXS.
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O članku

jezik rada: engleski
vrsta rada: pregledni članak
DOI: 10.5937/engrami1504005B
objavljen u SCIndeksu: 15.07.2016.

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