{"id":339,"date":"2015-04-16T19:10:58","date_gmt":"2015-04-16T17:10:58","guid":{"rendered":"http:\/\/www.zivotsesyndromem.cz\/?p=339"},"modified":"2015-04-16T19:10:58","modified_gmt":"2015-04-16T17:10:58","slug":"tracher-collins-syndrom-a-parkinsonova-choroba","status":"publish","type":"post","link":"https:\/\/www.zivotsesyndromem.cz\/?p=339","title":{"rendered":"Treacher Collins syndrom a Parkinsonova choroba"},"content":{"rendered":"

Maj\u00ed tyhle odli\u0161n\u00e9 diagn\u00f3zy n\u011bco spole\u010dn\u00e9ho? <\/span><\/strong><\/span><\/p>\n

Ned\u00e1vno jsem narazila na p\u0159\u00edsp\u011bvek v\u00a0mezin\u00e1rodn\u00ed facebookov\u00e9 skupin\u011b Treacher Collins Syndrome<\/a><\/strong>, kter\u00fd se ptal, zda lid\u00e9 s\u00a0TCS maj\u00ed v\u00a0rodin\u011b Parkinsona, proto\u017ee ob\u011b tyto diagn\u00f3zy pr\u00fd vych\u00e1z\u00ed z 5. chromozomu. Zaj\u00edmav\u00e9 byly koment\u00e1\u0159e pod t\u00edmto p\u0159\u00edsp\u011bvkem. Deset lid\u00ed odpov\u011bd\u011blo, \u017ee maj\u00ed v\u00a0rodin\u011b Parkinsonovu chorobu, tedy 65 % z\u00a0celkov\u00e9ho po\u010dtu sedmn\u00e1cti lid\u00ed (viz Graf 1).<\/span><\/p>\n

Graf 1: V\u00fdskyt Parkinsonovy choroby v\u00a0rodin\u011b s\u00a0TCS podle facebookov\u00e9 diskuse v zahrani\u010d\u00ed<\/em><\/span><\/p>\n

\"Graf<\/a>
Graf 1<\/span><\/figcaption><\/figure>\n

V\u00a0\u010desk\u00e9 facebookov\u00e9 skupin\u011b byl v\u00fdsledek opa\u010dn\u00fd. Jeden \u010dlov\u011bk potvrdil, \u017ee m\u011bl v\u00a0rodin\u011b Parkinsonovu chorobu, zbyl\u00fdch 5 lid\u00ed se s\u00a0Parkinsonem v\u00a0rodin\u011b nesetkali (viz Graf 2).<\/span><\/p>\n

Graf 2: V\u00fdskyt Parkinsonovy choroby v\u00a0rodin\u011b TCS v\u00a0\u010cR.<\/em><\/span><\/p>\n

\"Graf<\/a>
Graf 2<\/span><\/figcaption><\/figure>\n

Nev\u00e1hala jsem kontaktovat s\u00a0dotazem, zda tyhle dv\u011b diagn\u00f3zy maj\u00ed spole\u010dn\u00ed podklad, prim\u00e1\u0159ku odd\u011blen\u00ed l\u00e9ka\u0159sk\u00e9 genetiky v\u00a0d\u011btsk\u00e9 nemocnici v\u00a0Brn\u011b Renatu Gaillyovou,<\/b> kter\u00e1 mi velmi rychle odpov\u011bd\u011bla na m\u016fj e-mail. Cituji jej\u00ed odpov\u011b\u010f: \u201c<\/b> Z jednoho chromosomu „vych\u00e1zej\u00ed“ resp. na jednom chromosomu je ulo\u017eeno mnoho gen\u016f pro mnoho protein\u016f a chyby v t\u011bchto genech pak mohou b\u00fdt zodpov\u011bdn\u00e9 za r\u016fzn\u00e1 onemocn\u011bn\u00ed. Parkinsonova choroba je spojov\u00e1na s v\u00edce geny, nikoli jen s jedn\u00edm. Rovn\u011b\u017e tak syndrom Treacher Collins je spojov\u00e1n s v\u00edce geny – tedy situace (nejen) v na\u0161\u00ed<\/b><\/span>\u00a0<\/b><\/span>DNA<\/b><\/span>\u00a0<\/b><\/span>nen\u00ed jednoduch\u00e1.<\/b><\/span> <\/b>Syndrom Treacher Collins je spojov\u00e1n s mutacemi min. ve 13 genech, kter\u00e9 jsou lokalizov\u00e1ny na t\u0159ech chromosomech, 5.6.a 13.\u201c<\/b><\/span><\/span><\/p>\n

Tab. 1: <\/span>Genetika Treacher Collins syndromu<\/span><\/em> (http:\/\/omim.org\/<\/a>)<\/span><\/span><\/p>\n\n\n\n\n<\/colgroup>\n\n\n\n\n\n
Lokace<\/span><\/td>\nFenotyp<\/span><\/td>\nGen\/Lokus<\/span><\/td>\n<\/tr>\n
5q32<\/span><\/span><\/a><\/span><\/td>\nTreacher Collins syndrome 1<\/span><\/span><\/a><\/span><\/td>\nTCOF1, MFD1, TCS1<\/span><\/span><\/a><\/span><\/td>\n<\/tr>\n
6p21.1<\/span><\/span><\/a><\/span><\/td>\nTreacher Collins syndrome 3<\/span><\/span><\/a><\/span><\/td>\nPOLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3<\/span><\/span><\/a><\/span><\/td>\n<\/tr>\n
13q12.2<\/span><\/span><\/a><\/span><\/td>\nTreacher Collins syndrome 3<\/span><\/span><\/a><\/span><\/td>\nPOLR1D, RPA16, RPAC2, TCS2<\/span><\/span><\/a><\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

V\u00a0tabulce 1 je detailn\u00ed genetika i s\u00a0odkazy na podrobn\u011bj\u0161\u00ed informace. Proto se ned\u00e1 jednozna\u010dn\u011b \u0159\u00edci, \u017ee Parkinsonova choroba m\u00e1 n\u011bjak\u00e9 spojen\u00ed s\u00a0Treacher Collins syndromem. V\u00fdskyt Parkinsonovy <\/span>choroby<\/b><\/span> je <\/span>1:1000,<\/b><\/span> u osob nad 60 let 1:100 (<\/span>http:\/\/www.psychiatriepropraxi.cz\/pdfs\/psy\/2007\/02\/03.pdf<\/span><\/a><\/strong>). Kde\u017eto u v\u00fdskytu Treacher Collins je <\/span>1 narozen\u00e9 d\u00edt\u011b na 50\u00a0000<\/b><\/span>. Proto nen\u00ed divu, \u017ee mnoho rodin m\u00e1 ve sv\u00e9 anamn\u00e9ze vedle Treacher Collins i Parkinsonovu chorobu.<\/span><\/span><\/p>\n

V\u00a0\u010cesk\u00e9 republice trp\u00ed Parkinsonovou nemoc\u00ed okolo 16\u00a0000 obyvatel. Treacher Collins syndromem u n\u00e1s trp\u00ed asi 100 obyvatel.<\/b><\/span> J\u00e1 osobn\u011b zn\u00e1m pouh\u00fdch 10-20 \u010desk\u00fdch jedinc\u016f trp\u00edc\u00ed Treacher Collins syndromem. Kde jsou ostatn\u00ed? <\/span>\uf04a<\/span><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

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