{"id":248457,"date":"2022-03-02T19:04:46","date_gmt":"2022-03-02T18:04:46","guid":{"rendered":"http:\/\/zakrasnejsivimperk.cz\/?p=248457"},"modified":"2022-05-28T19:30:07","modified_gmt":"2022-05-28T18:30:07","slug":"veda-a-priroda-mysi-a-geneticke-nuzky-pomahaji-hledat-lecbu-andelskych-deti","status":"publish","type":"post","link":"https:\/\/zakrasnejsivimperk.cz\/?p=248457","title":{"rendered":"V\u011aDA: My\u0161i a genetick\u00e9 n\u016f\u017eky pom\u00e1haj\u00ed hledat l\u00e9\u010dbu \u201eand\u011blsk\u00fdch\u201c d\u011bt\u00ed"},"content":{"rendered":"

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V\u011bdci z \u010cesk\u00e9ho centra pro fenogenomiku (\u00dastav molekul\u00e1rn\u00ed genetiky AV \u010cR v centru BIOCEV) vytv\u00e1\u0159ej\u00ed my\u0161\u00ed modely, kter\u00e9 pom\u00e1haj\u00ed odhalovat p\u0159\u00ed\u010diny vzniku lidsk\u00fdch chorob a umo\u017e\u0148uj\u00ed testov\u00e1n\u00ed nov\u00fdch l\u00e9\u010debn\u00fdch postup\u016f. Nap\u0159\u00edklad proti rakovin\u011b, cukrovce, neplodnosti, ale tak\u00e9 vz\u00e1cn\u00fdm onemocn\u011bn\u00edm. Celosv\u011btov\u011b jimi trp\u00ed 300 milion\u016f osob, v \u010cR p\u0159ibli\u017en\u011b 600 000. Nemoci se nej\u010dast\u011bji projevuj\u00ed kr\u00e1tce po narozen\u00ed.<\/h6>\n

\"\"Oliver se narodil jako zdrav\u00fd chlapec. Zhruba ve \u010dty\u0159ech m\u011bs\u00edc\u00edch si rodi\u010de v\u0161imli m\u00edrn\u00e9ho opo\u017ed\u011bn\u00ed ve v\u00fdvoji. Kdy\u017e mu byl rok, genetick\u00e9 testy u n\u011bj odhalily Angelman\u016fv syndrom, nevyl\u00e9\u010diteln\u00e9 vz\u00e1cn\u00e9 onemocn\u011bn\u00ed.<\/p>\n

\u010cast\u00fd \u00fasm\u011bv a dobr\u00e1 n\u00e1lada dala tomuto onemocn\u011bn\u00ed neofici\u00e1ln\u00ed n\u00e1zev syndrom \u201e\u0161\u0165astn\u00e9ho d\u00edt\u011bte\u201c. D\u011btem se \u0159\u00edk\u00e1 \u201eand\u011blsk\u00e9\u201c. Diagn\u00f3za m\u00e1 i odvr\u00e1cenou tv\u00e1\u0159. Sn\u00ed\u017een\u00fd intelekt, probl\u00e9my s motorikou a sp\u00e1nkem, epileptick\u00e9 z\u00e1chvaty. \u201eAnd\u011blsk\u00e9\u201c d\u011bti nikdy nepromluv\u00ed, dorozum\u00edvaj\u00ed se jen pomoc\u00ed jednoduch\u00fdch piktogram\u016f. Po zbytek \u017eivota jsou z\u00e1visl\u00e9 na p\u00e9\u010di ostatn\u00edch.<\/p>\n

\u201eNikdy nezapomenu okam\u017eik, kdy jsem se poprv\u00e9 dozv\u011bd\u011bla, co to je Angelman\u016fv syndrom. Byl to okam\u017eik, kdy se mi zastavilo srdce, sev\u0159elo hrdlo. Byl to moment, kdy jsem m\u011bla pocit, \u017ee u\u017e se nikdy nenadechnu! Sd\u011blili n\u00e1m, \u017ee na\u0161e d\u011b\u0165\u00e1tko je nevyl\u00e9\u010diteln\u011b nemocn\u00e9, do konce \u017eivota zcela z\u00e1visl\u00e9 na n\u00e1s,\u201c<\/em> popisuje prvn\u00ed pocity po diagn\u00f3ze Oliverova matka Lenka Hajgajda.<\/p>\n

V roce 2018 man\u017eel\u00e9 Hajgajdovi zalo\u017eili Asociaci genov\u00e9 terapie (ASGENT). Neziskovou organizaci, jej\u00edm\u017e c\u00edlem je podporovat v\u00fdzkum vz\u00e1cn\u00fdch onemocn\u011bn\u00ed. Stalo se tak v\u016fbec poprv\u00e9 v \u010cR, kdy sami pacienti iniciovali z\u00e1kladn\u00ed v\u00fdzkum vz\u00e1cn\u00e9ho onemocn\u011bn\u00ed a oslovili v\u011bdce z \u010cesk\u00e9ho centra pro fenogenomiku.<\/p>\n

Pacienti sirotci<\/h6>\n

Vz\u00e1cn\u00e9 onemocn\u011bn\u00ed je v Evrop\u011b definov\u00e1no jako to, kter\u00e9 postihuje m\u00e9n\u011b ne\u017e jednu osobu z 2000. Glob\u00e1ln\u011b je identifikov\u00e1no v\u00edce ne\u017e 7000 druh\u016f. Vyzna\u010duj\u00ed se \u0161irokou rozmanitost\u00ed poruch a p\u0159\u00edznak\u016f, kter\u00e9 se li\u0161\u00ed nemoc od nemoci i pacient od pacienta trp\u00edc\u00ed stejnou chorobou.<\/p>\n

Vzhledem k n\u00edzk\u00e9mu v\u00fdskytu jednotliv\u00fdch onemocn\u011bn\u00ed chyb\u00ed l\u00e9ka\u0159sk\u00e1 specializace i podrobn\u00e9 znalosti o jednotliv\u00fdch chorob\u00e1ch. Tak\u00e9 v\u00fdzkum v t\u00e9to oblasti je omezen\u00fd, a to nejen z d\u016fvodu n\u00edzk\u00e9 ekonomick\u00e9 n\u00e1vratnosti. Navzdory velk\u00e9mu celkov\u00e9mu po\u010dtu vz\u00e1cn\u00fdch onemocn\u011bn\u00ed jsou pacienti tzv. \u201esirotky\u201c zdravotnick\u00fdch syst\u00e9m\u016f, nebo\u0165 diagn\u00f3za, l\u00e9\u010dba a p\u0159\u00edstup k v\u00fdsledk\u016fm v\u00fdzkumu jsou \u010dasto nedostate\u010dn\u00e9.<\/p>\n

\u201e72 % vz\u00e1cn\u00fdch onemocn\u011bn\u00ed m\u00e1 genetick\u00fd z\u00e1klad. A pr\u00e1v\u011b to je oblast, kde \u010cesk\u00e9 centrum pro fenogenomiku m\u00e1 co \u0159\u00edci. Vytv\u00e1\u0159\u00edme geneticky upraven\u00e9 my\u0161\u00ed modely s nefunk\u010dn\u00edm genem, a t\u00edm m\u016f\u017eeme modelovat lidskou nemoc,\u201c<\/em> \u0159\u00edk\u00e1 Radislav Sedl\u00e1\u010dek, \u0159editel centra.<\/p>\n

Pro\u010d se pou\u017e\u00edvaj\u00ed pr\u00e1v\u011b my\u0161i? P\u0159ibli\u017en\u011b 98 % my\u0161\u00edch gen\u016f je podobn\u00fdch lidsk\u00fdm. \u201eJsou geny, kter\u00e9 nemaj\u00ed zvl\u00e1\u0161tn\u00ed dopad p\u0159\u00edmo na fyziologii, nicm\u00e9n\u011b mohou hr\u00e1t ur\u010ditou roli u vzniku nemoc\u00ed. Funkce jin\u00fdch gen\u016f, jich\u017e je zhruba t\u0159etina, je natolik d\u016fle\u017eit\u00e1, \u017ee pokud je vy\u0159ad\u00edme z funkce, embryo se nevyvine a my\u0161 se v\u016fbec nenarod\u00ed. A pr\u00e1v\u011b tyto geny \u010dasto zp\u016fsobuj\u00ed choroby a pot\u00ed\u017ee p\u0159i v\u00fdvoji plodu,<\/em>\u201c vysv\u011btluje Radislav Sedl\u00e1\u010dek.<\/p>\n

Spolu se zahrani\u010dn\u00edmi partnery prov\u011b\u0159uj\u00ed funkci v\u0161ech gen\u016f, kter\u00e9 maj\u00ed lid\u00e9 a my\u0161i spole\u010dn\u00e9. Kdy\u017e se jim to poda\u0159\u00ed, vznikne encyklopedie funkce gen\u016f, jeden z nejv\u00fdznamn\u011bj\u0161\u00edch miln\u00edk\u016f v biologii a medic\u00edn\u011b.<\/p>\n

\u201eTeprve a\u017e dojdeme k pozn\u00e1n\u00ed toho, co p\u0159esn\u011b jednotliv\u00e9 geny d\u011blaj\u00ed, budeme schopni, obrazn\u011b \u0159e\u010deno, poskl\u00e1dat si ze slov cel\u00e9 v\u011bty a budeme tak l\u00e9pe rozum\u011bt tomu, k \u010demu jsou geny pot\u0159ebn\u00e9 a jak se pod\u00edlej\u00ed na vzniku nemoc\u00ed,\u201c<\/em> up\u0159es\u0148uje v\u00fdznam v\u00fdzkumu Radislav Sedl\u00e1\u010dek.<\/p>\n

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Genetick\u00e9 n\u016f\u017eky<\/h6>\n

P\u0159i tvorb\u011b my\u0161\u00edho modelu vyu\u017e\u00edvaj\u00ed v\u011bdci nej\u010dast\u011bji tzv. \u201egenetick\u00e9 n\u016f\u017eky\u201c \u2013 metodu CRISPR-Cas9, za kterou byla v roce 2020 ud\u011blena Nobelova cena za chemii. Technika umo\u017e\u0148uje v\u011bdc\u016fm pracovat s konkr\u00e9tn\u00edm \u00fasekem DNA a opravovat posti\u017een\u00fd gen. Genetick\u00e1 \u00faprava se d\u011bje na \u00farovni jednobun\u011b\u010dn\u00e9ho my\u0161\u00edho embrya a d\u00edky tomu je informativn\u00ed mutace obsa\u017eena ve v\u0161ech bu\u0148k\u00e1ch dosp\u011bl\u00e9ho jedince.<\/p>\n

Pomoc\u00ed CRISPR-Cas9 lze my\u0161\u00ed gen zm\u011bnit nebo zcela vypnout. N\u00e1sledn\u011b je model p\u0159ed\u00e1n specialist\u016fm, kte\u0159\u00ed provedou detailn\u00ed fyziologick\u00e9 testy. Nap\u0159\u00edklad plic, kardiovaskul\u00e1rn\u00edho syst\u00e9mu, zraku, sluchu, neurobehavior\u00e1ln\u00ed, klinick\u00e9 biochemie, imunologie, metabolismu nebo histopatologie.<\/p>\n

Ve spolupr\u00e1ci s bioinformatiky detailn\u011b dan\u00fd model pop\u00ed\u0161ou. Ka\u017ed\u00e1 my\u0161 tak projde komplexn\u00ed \u0159adou diagnostick\u00fdch test\u016f, kter\u00e9 odhal\u00ed, jak funguje konkr\u00e9tn\u00ed gen v organismu, kde v\u0161ude se jeho absence projev\u00ed a jak\u00fd m\u00e1 vliv na p\u0159\u00edpadn\u00fd rozvoj nemoci.<\/p>\n

\u201eTento postup pou\u017e\u00edv\u00e1me i pro objasn\u011bn\u00ed vzniku genetick\u00fdch vz\u00e1cn\u00fdch onemocn\u011bn\u00ed a detailn\u00edho pochopen\u00ed chov\u00e1n\u00ed bun\u011bk s \u00faplnou absenc\u00ed gen\u016f nebo zm\u011bn\u011bn\u00fdmi geny, kter\u00e9 zp\u016fsobuj\u00ed dan\u00e9 onemocn\u011bn\u00ed,\u201c<\/em> vysv\u011btluje Radislav Sedl\u00e1\u010dek a dod\u00e1v\u00e1: \u201eU my\u0161\u00ed s Angelmanov\u00fdm syndromem se n\u00e1m poda\u0159ilo zjistit, jak lze ovlivnit, a dokonce i zm\u00edrnit n\u00e1sledky uml\u010den\u00fdch gen\u016f. V\u011b\u0159\u00edme, \u017ee i n\u00e1\u0161 v\u00fdzkum p\u0159isp\u011bje k objasn\u011bn\u00ed role, funkce a regulace genu zodpov\u011bdn\u00e9ho za AS, a z\u00e1rove\u0148 i k nalezen\u00ed zp\u016fsobu, jak kompenzovat jeho ztr\u00e1tu.\u201c<\/em><\/p>\n

\u010cesk\u00e9 my\u0161i pro cel\u00fd sv\u011bt<\/h6>\n

N\u00e1klady na vytvo\u0159en\u00ed my\u0161\u00edho modelu se odv\u00edj\u00ed od slo\u017eitosti genu, za jeden mohou \u0161plhat a\u017e do v\u00fd\u0161e 200 000 K\u010d. N\u00e1sledn\u00e1 z\u00e1kladn\u00ed fenotypiza\u010dn\u00ed anal\u00fdza za\u010d\u00edn\u00e1 na 500 000 K\u010d a m\u016f\u017ee dos\u00e1hnout i n\u011bkolika milion\u016f, zvl\u00e1\u0161t\u011b u gen\u016f souvisej\u00edc\u00edch se syst\u00e9mov\u00fdmi onemocn\u011bn\u00edmi, je\u017e postihuj\u00ed v\u00edce org\u00e1n\u016f.<\/p>\n

My\u0161\u00ed modely jsou velk\u00fdmi pomocn\u00edky i p\u0159i v\u00fdvoji a testov\u00e1n\u00ed nov\u00fdch l\u00e9\u010div a terapeutick\u00fdch postup\u016f. Uplat\u0148uj\u00ed se v r\u00e1mci preklinick\u00e9ho testov\u00e1n\u00ed, kdy se testuje bezpe\u010dnost a \u00fa\u010dinnost nov\u00fdch l\u00e9\u010div. V p\u0159\u00edpad\u011b, \u017ee preklinick\u00e9 testov\u00e1n\u00ed dopadne dob\u0159e, pokra\u010duje se klinick\u00fdm testov\u00e1n\u00edm. Cel\u00fd proces trv\u00e1 v pr\u016fm\u011bru 7 let (1,5 roku preklinick\u00e9 testov\u00e1n\u00ed a 5 let klinick\u00e9 hodnocen\u00ed). V\u00fdvoj nov\u00e9ho l\u00e9ku od zah\u00e1jen\u00ed v\u00fdzkumu po uveden\u00ed na trh tak trv\u00e1 v pr\u016fm\u011bru 12\u201315 let.<\/p>\n

\u201eMy\u0161\u00ed modely vytvo\u0159en\u00e9 v na\u0161em centru maj\u00ed ve v\u011bdeck\u00e9 a farmaceutick\u00e9 komunit\u011b velk\u00fd ohlas. Prob\u00edhaj\u00ed jedn\u00e1n\u00ed s n\u011bkolika partnery z farmaceutick\u00fdch firem, kte\u0159\u00ed cht\u011bj\u00ed na\u0161e modely vyu\u017e\u00edt pro vytvo\u0159en\u00ed nebo testov\u00e1n\u00ed revolu\u010dn\u00edch experiment\u00e1ln\u00edch terapi\u00ed. P\u0159in\u00e1\u0161\u00ed mi velkou radost, \u017ee na\u0161e pr\u00e1ce nach\u00e1z\u00ed st\u00e1le v\u00edce uplatn\u011bn\u00ed i pro v\u00fdvoj l\u00e9\u010dby mnohdy velmi t\u011b\u017ek\u00fdch onemocn\u011bn\u00ed,\u201c<\/em> vysv\u011btluje Radislav Sedl\u00e1\u010dek.<\/p>\n

Text a foto: (tzav\u010dr)<\/strong><\/p>\n

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