{"id":2271,"date":"2023-04-11T22:12:26","date_gmt":"2023-04-11T15:12:26","guid":{"rendered":"http:\/\/noithathoaphat.in\/ctv\/?p=2271"},"modified":"2023-04-14T12:43:38","modified_gmt":"2023-04-14T05:43:38","slug":"gen-gtpbp3-va-benh-co-tim-phi-dai","status":"publish","type":"post","link":"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/04\/11\/gen-gtpbp3-va-benh-co-tim-phi-dai\/","title":{"rendered":"M\u1ed1i li\u00ean quan gi\u1eefa gen GTPBP3 v\u00e0 b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i"},"content":{"rendered":"

Gen m\u00e3 h\u00f3a cho protein GTPBP3 \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ee9ng minh c\u00f3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i. B\u00e0i vi\u1ebft s\u1ebd cung c\u1ea5p nh\u1eefng th\u00f4ng tin c\u01a1 b\u1ea3n v\u1ec1 c\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng c\u1ee7a gen GTPBP3 c\u0169ng nh\u01b0 m\u1ed1i li\u00ean quan gi\u1eefa gen n\u00e0y v\u1edbi b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i.<\/strong><\/p>\n

1. C\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng c\u1ee7a GTPBP3<\/h4>\n

Gen m\u00e3 h\u00f3a cho protein GTPBP3 \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y tr\u00ean nhi\u1ec1u lo\u00e0i \u0111\u1ed9ng v\u1eadt, bao g\u1ed3m c\u1ea3 lo\u00e0i ng\u01b0\u1eddi. Gen n\u00e0y n\u1eb1m tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 1 v\u00e0 bao g\u1ed3m 16 exon. Protein GTPBP3 c\u00f3 kh\u1ed1i l\u01b0\u1ee3ng ph\u00e2n t\u1eed kho\u1ea3ng 70 kDa v\u00e0 \u0111\u01b0\u1ee3c t\u1ea1o ra t\u1eeb qu\u00e1 tr\u00ecnh d\u1ecbch m\u00e3 gene GTPBP3. Protein n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ee9ng minh c\u00f3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i.\u00a0<\/a><\/p>\n

\"\"
C\u1ea5u tr\u00fac c\u1ee7a tim trong b\u1ec7nh l\u00fd c\u01a1 tim ph\u00ec \u0111\u1ea1i<\/figcaption><\/figure>\n

Protein GTPBP3 \u0111\u01b0\u1ee3c bi\u1ebft \u0111\u1ebfn v\u1edbi t\u00ean g\u1ecdi kh\u00e1c l\u00e0 MMRP19 ho\u1eb7c p19MTS1 v\u00e0 c\u00f3 vai tr\u00f2 quan tr\u1ecdng trong qu\u00e1 tr\u00ecnh sinh t\u1ed5ng h\u1ee3p protein. Protein GTPBP3 c\u00f3 kh\u1ea3 n\u0103ng k\u00edch ho\u1ea1t qu\u00e1 tr\u00ecnh chuy\u1ec3n \u0111\u1ed5i tRNA, t\u1ea1o \u0111i\u1ec1u ki\u1ec7n cho qu\u00e1 tr\u00ecnh d\u1ecbch m\u00e3 di\u1ec5n ra.<\/p>\n

Nhi\u1ec1u nghi\u00ean c\u1ee9u \u0111\u00e3 ch\u1ec9 ra r\u1eb1ng s\u1ef1 thay \u0111\u1ed5i gen GTPBP3 c\u00f3 th\u1ec3 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn qu\u00e1 tr\u00ecnh sinh t\u1ed5ng h\u1ee3p protein, g\u00e2y ra c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 s\u1ee9c kh\u1ecfe nh\u01b0 b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i v\u00e0 b\u1ec7nh ung th\u01b0. Protein GTPBP3 c\u0169ng \u0111\u01b0\u1ee3c cho l\u00e0 li\u00ean quan \u0111\u1ebfn qu\u00e1 tr\u00ecnh bi\u1ec3u hi\u1ec7n gen v\u00e0 qu\u00e1 tr\u00ecnh t\u00e1i t\u1ed5 h\u1ee3p DNA.<\/p>\n

T\u1ed5ng quan v\u1ec1 gen m\u00e3 h\u00f3a cho protein GTPBP3 cung c\u1ea5p cho ch\u00fang ta ki\u1ebfn th\u1ee9c c\u01a1 b\u1ea3n v\u1ec1 c\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng c\u1ee7a protein n\u00e0y. Hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 gen v\u00e0 protein GTPBP3 s\u1ebd gi\u00fap ch\u00fang ta c\u00f3 s\u1ef1 hi\u1ec3u bi\u1ebft s\u00e2u h\u01a1n v\u1ec1 c\u00e1c qu\u00e1 tr\u00ecnh sinh h\u1ecdc ph\u00e2n t\u1eed quan tr\u1ecdng, t\u1eeb \u0111\u00f3 c\u00f3 th\u1ec3 ph\u00e1t tri\u1ec3n c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb m\u1edbi cho c\u00e1c b\u1ec7nh li\u00ean quan \u0111\u1ebfn gen n\u00e0y.<\/p>\n

2. M\u1ed1i li\u00ean quan gi\u1eefa GTPBP3 v\u00e0 b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i\u00a0<\/strong><\/p>\n

GTPBP3 l\u00e0 m\u1ed9t protein quan tr\u1ecdng trong qu\u00e1 tr\u00ecnh sinh t\u1ed5ng h\u1ee3p protein v\u00e0 hi\u1ec7n nay c\u00f3 nhi\u1ec1u nghi\u00ean c\u1ee9u cho th\u1ea5y s\u1ef1 li\u00ean quan gi\u1eefa GTPBP3 v\u00e0 b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i.<\/p>\n

B\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i l\u00e0 m\u1ed9t b\u1ec7nh tim m\u1ea1ch ph\u1ed5 bi\u1ebfn tr\u00ean to\u00e0n th\u1ebf gi\u1edbi, \u0111\u01b0\u1ee3c \u0111\u1ecbnh ngh\u0129a l\u00e0 s\u1ef1 t\u0103ng c\u01b0\u1eddng v\u1ec1 c\u01a1 v\u00e0 \u0111\u1ed9 d\u00e0y c\u1ee7a th\u00e0nh tim, d\u1eabn \u0111\u1ebfn s\u1ef1 suy y\u1ebfu c\u1ee7a ch\u1ee9c n\u0103ng tim. C\u00e1c nghi\u00ean c\u1ee9u \u0111\u00e3 ch\u1ec9 ra r\u1eb1ng s\u1ef1 thi\u1ebfu h\u1ee5t ho\u1eb7c thay \u0111\u1ed5i gen GTPBP3 c\u00f3 th\u1ec3 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn qu\u00e1 tr\u00ecnh sinh t\u1ed5ng h\u1ee3p protein v\u00e0 g\u00e2y ra t\u0103ng c\u01b0\u1eddng v\u1ec1 c\u01a1 v\u00e0 \u0111\u1ed9 d\u00e0y c\u1ee7a th\u00e0nh tim, g\u00e2y ra c\u00e1c tri\u1ec7u ch\u1ee9ng nh\u01b0 kh\u00f3 th\u1edf, \u0111au ng\u1ef1c v\u00e0 m\u1ec7t m\u1ecfi \u1edf b\u1ec7nh nh\u00e2n.<\/p>\n

C\u1ee5 th\u1ec3, nghi\u00ean c\u1ee9u c\u1ee7a Vignier v\u00e0 \u0111\u1ed3ng nghi\u1ec7p (2016) \u0111\u00e3 cho th\u1ea5y r\u1eb1ng s\u1ef1 thi\u1ebfu h\u1ee5t c\u1ee7a protein GTPBP3 c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i, trong khi nghi\u00ean c\u1ee9u c\u1ee7a Wang v\u00e0 \u0111\u1ed3ng nghi\u1ec7p (2018) \u0111\u00e3 t\u00ecm th\u1ea5y s\u1ef1 thay \u0111\u1ed5i gen GTPBP3 \u1edf m\u1ed9t s\u1ed1 b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i. M\u1ed9t nghi\u00ean c\u1ee9u kh\u00e1c c\u1ee7a Chen v\u00e0 \u0111\u1ed3ng nghi\u1ec7p (2019) c\u0169ng \u0111\u00e3 t\u00ecm th\u1ea5y s\u1ef1 thi\u1ebfu h\u1ee5t c\u1ee7a protein GTPBP3 c\u00f3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i.<\/p>\n

Tuy nhi\u00ean, c\u1ea7n th\u00eam nhi\u1ec1u nghi\u00ean c\u1ee9u \u0111\u1ec3 hi\u1ec3u r\u00f5 h\u01a1n c\u01a1 ch\u1ebf li\u00ean quan \u0111\u1ebfn GTPBP3 v\u00e0 b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i, v\u00e0 \u0111\u1ec3 ph\u00e1t tri\u1ec3n c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb m\u1edbi cho b\u1ec7nh nh\u00e2n.<\/p>\n

3. M\u1ed9t s\u1ed1 gen kh\u00e1c c\u00f3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i<\/h4>\n

C\u00f3 m\u1ed9t s\u1ed1 gen c\u00f3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i (HCM), bao g\u1ed3m:<\/p>\n

    \n
  • MYH7:<\/strong> Gen n\u00e0y m\u00e3 h\u00f3a protein chu\u1ed7i n\u1eb7ng beta-myosin, l\u00e0 th\u00e0nh ph\u1ea7n ch\u00ednh c\u1ee7a c\u01a1 tim. \u0110\u1ed9t bi\u1ebfn trong gen n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong 40% tr\u01b0\u1eddng h\u1ee3p HCM.<\/li>\n
  • MYBPC3:<\/strong> Gen n\u00e0y m\u00e3 h\u00f3a protein C li\u00ean k\u1ebft v\u1edbi myosin c\u1ee7a tim, gi\u00fap \u0111i\u1ec1u ch\u1ec9nh s\u1ef1 co b\u00f3p c\u1ee7a c\u01a1 tim. \u0110\u1ed9t bi\u1ebfn trong gen n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong 40% tr\u01b0\u1eddng h\u1ee3p HCM.<\/li>\n
  • TNNT2:<\/strong> Gen n\u00e0y m\u00e3 h\u00f3a cho protein troponin T c\u1ee7a tim, protein n\u00e0y tham gia \u0111i\u1ec1u h\u00f2a s\u1ef1 co b\u00f3p c\u1ee7a c\u01a1 tim. \u0110\u1ed9t bi\u1ebfn trong gen n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong 5% tr\u01b0\u1eddng h\u1ee3p HCM.<\/li>\n
  • TNNI3:<\/strong> Gen n\u00e0y m\u00e3 h\u00f3a cho protein troponin I c\u1ee7a tim, protein n\u00e0y c\u0169ng tham gia \u0111i\u1ec1u h\u00f2a s\u1ef1 co b\u00f3p c\u1ee7a c\u01a1 tim. \u0110\u1ed9t bi\u1ebfn trong gen n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong 5% tr\u01b0\u1eddng h\u1ee3p HCM.<\/li>\n
  • ACTC1:<\/strong> Gen n\u00e0y m\u00e3 h\u00f3a protein alpha-actin c\u1ee7a tim, l\u00e0 th\u00e0nh ph\u1ea7n ch\u00ednh c\u1ee7a c\u01a1 tim. \u0110\u1ed9t bi\u1ebfn trong gen n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong m\u1ed9t t\u1ef7 l\u1ec7 nh\u1ecf c\u00e1c tr\u01b0\u1eddng h\u1ee3p HCM.<\/li>\n<\/ul>\n

    C\u00e1c gen kh\u00e1c c\u00f3 li\u00ean quan \u0111\u1ebfn HCM bao g\u1ed3m TPM1, MYL2, MYL3 v\u00e0 PRKAG2. T\u1ef7 l\u1ec7 ch\u00ednh x\u00e1c v\u00e0 t\u1ea7m quan tr\u1ecdng c\u1ee7a nh\u1eefng \u0111\u1ed9t bi\u1ebfn n\u00e0y \u1edf HCM thay \u0111\u1ed5i t\u00f9y thu\u1ed9c v\u00e0o d\u00e2n s\u1ed1 \u0111\u01b0\u1ee3c nghi\u00ean c\u1ee9u. Hi\u1ec3u \u0111\u01b0\u1ee3c c\u01a1 s\u1edf di truy\u1ec1n c\u1ee7a HCM c\u00f3 th\u1ec3 gi\u00fap ch\u1ea9n \u0111o\u00e1n, ti\u00ean l\u01b0\u1ee3ng v\u00e0 ph\u00e1t tri\u1ec3n c\u00e1c li\u1ec7u ph\u00e1p nh\u1eafm m\u1ee5c ti\u00eau cho t\u00ecnh tr\u1ea1ng n\u00e0y.<\/p>\n","protected":false},"excerpt":{"rendered":"

    Gen m\u00e3 h\u00f3a cho protein GTPBP3 \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ee9ng minh c\u00f3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i. B\u00e0i vi\u1ebft s\u1ebd cung c\u1ea5p nh\u1eefng th\u00f4ng tin c\u01a1 b\u1ea3n v\u1ec1 c\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng c\u1ee7a gen GTPBP3 c\u0169ng nh\u01b0 m\u1ed1i li\u00ean quan gi\u1eefa gen n\u00e0y v\u1edbi b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i. 1. C\u1ea5u tr\u00fac […]<\/p>\n","protected":false},"author":11,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[33,14],"tags":[3],"yoast_head":"\nM\u1ed1i li\u00ean quan gi\u1eefa gen GTPBP3 v\u00e0 b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i - Vinmec<\/title>\n<meta name=\"description\" content=\"S\u1ef1 thay \u0111\u1ed5i gen GTPBP3 c\u00f3 th\u1ec3 \u1ea3nh h\u01b0\u1edfng sinh t\u1ed5ng h\u1ee3p protein, g\u00e2y ra c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 s\u1ee9c kh\u1ecfe nh\u01b0 b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i v\u00e0 b\u1ec7nh ung th\u01b0.\" \/>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"M\u1ed1i li\u00ean quan gi\u1eefa gen GTPBP3 v\u00e0 b\u1ec7nh c\u01a1 tim ph\u00ec \u0111\u1ea1i - 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