
ã¡ã¿ã«åã®ã仿¥ã®ç²Ÿç¥å»åŠè±ç¥èïŒã(221)-(225)
çæ§ãããã«ã¡ã¯ãé¹¿å¶æ¢ä»(ããã»ããã)ã§ãð
ãžã¡ãžã¡ããæ¥ãã€ã¥ããŸããâŠâïž
æ¢ éšã®æŽãéããšãŠããããããæããææã§ãããçæ§ããããéããã§ããããïŒ
å°çãå®ã¯æè¿æ²ããããšããããŸããâŠã
3æã«ã¢ã¹ããŒã¬ãŒã§ããã£ãã³ã¹ã¢ã¹ã®çš®ã倧åã«ãã©ã³ã¿ãŒã§è²ãŠãŠããã®ã§ãããå šéšæ¯ãã¡ãããŸããâŠð
æ¢ éšã®ãã«ãŒïŒïŒïŒã£ãšæããå«ã³ãããªãïŒé±éã§ããã...ã
(ããããæ¬åœã«æ¢ éšãåå ãã¯äžæã§ããâŠð€)
ããŠæ°ãåãçŽããŠãä»åã¯ç¬¬221åãã225åãŸã§ã®ã¡ã¿ã«åã®æãã€ãŒãããŸãšããŠããŸãã
Twitterã§ãé 匵ãã¡ã¿ã«åã®å§¿ãã§noteæ°ã®çæ§ãæ¯éèŠããŠã¿ãŠãã ããâºïž
Twitteræ°ã®çæ§ããTwitterã§ã¯èªããããªãã£ããã¡ã¿ã«ã®ããŸãããããããŸãã®ã§ããèå³ãããã°æ¯éãèªã¿ãã ããïŒ
ã仿¥ã®ç²Ÿç¥å»åŠè±ç¥èéïŒ(ãã®45)ã
221.çµ±å倱調çã®çºç ã«é¢é£ããéºäŒåç°åžžã§æåãªã®ã¯ã¹ã³ããã©ã³ãã®å®¶ç³»ã§èŠã€ãã£ãDISC1éºäŒåã ãããã®éºäŒåã«è»¢åº§(æè²äœãåæãããä»ã®æè²äœãšçµå)ãçãããšDISC1éºäŒåã®æ©èœãé害ãããèçæã®ç¥çµçްèã®ç§»åã軞玢䌞é·ãæš¹ç¶çªèµ·åœ¢æãé»å®³ããããã ã£ãŠã
ãã¡ã¿ã«ã®ããŸãã
éºäŒåãšçµ±å倱調çãã€ãªãé¢ä¿æ§ã¯çç©é²åã«ããããããã·ã³ã°ãªã³ã¯ãã®ããã«âè¬"ãšãããŠãããã©ãDISC1ã®çºèŠã«ããã粟ç¥çŸæ£ã®çºç
ãçç©åŠçã«èª¬æãã€ãããâŠããšãã倧ããªæåŸ
ãå¯ããããããããããDISC1ç°åžžèªäœã¯æ¥µããŠçšãªã®ã§å
šãŠã®çµ±å倱調çãDISC1ã§èª¬æã§ãããããããªããã
âDISCãšããã°ãã«ãŒã¬ã€ãã£ã¹ã¯ïŒæãåºã®èšé²ã«ã©ããïŒ
222.æšæ¥ç޹ä»ããDISC1éºäŒåç°åžžãæã€å®¶ç³»ã«ãããŠä¿å è 29åã®ãã¡7åãçµ±å倱調çã1åã忥µæ§é害ã10åã倧ãã€ç ã ã£ãããã ããDISC1éºäŒåã«ç°åžžããã£ãŠãå¿ ãããçµ±å倱調çãçºç ããªããšããããšã¯ãç°å¢èŠå ãçµ±å倱調çã®çºç ã«åœ±é¿ããããšãæå³ãããã
16ãã¡ã¿ã«ã®ããŸãã
DISC1ãšããéºäŒåç°åžžãå¿
ãããçµ±å倱調çãçºç
ãããããã§ãªãâŠããšããçµæã ãã©ãããã¯éã«ãããšãçµ±å倱調çã忥µæ§é害ããã€ç
ã«ã¯å
±éããçç©åŠçç°åžžãããããšããããšã瀺åããŠãããšæããã19äžçŽã®ãã€ãã®ç²Ÿç¥å»åŠè
ã°ãªãŒãžã³ã¬ãŒã¯ã粟ç¥çŸæ£ã¯å
æ¥äžã€ã§ããããããäžäººã®æ£è
ã®äžã§å€åãã諞段éã§çš®ã
ã®çç¶ãåºçŸããããšããåäžç²Ÿç¥ç
è«ããšãªãããã©ãDISC1ã¯ããæå³ãã®åäžæ§ã衚ããŠããããã«ãèŠãããªã
âãã€ãã®ç²Ÿç¥å»åŠè ã°ãªãŒãžã³ã¬ãŒã®æ¬ã§ãïŒâŠé«æãâŠð
223.NGR1éºäŒåã¯ã¢ã€ã¹ã©ã³ãã®çµ±å倱調ç家系調æ»ã«ãã£ãŠåå®ãããçµ±å倱調çé¢é£éºäŒåã ããNRG1ã¯èçæã®ç¥çµçްèçªèµ·ã®äŒžé·ãæäººã§ã¯NMDAå容äœã®çºçŸãªã©ã«é¢ããããNGR1ã®éºäŒåå€åã¯çµ±åå€±èª¿çæ£è ããã®è³å®€æ¡å€§ã»çœè³ªé害ãšé¢é£ããããšãææãããŠããã
ãã¡ã¿ã«ã®ããŸãã
äœè«ã ãã©ã¢ã€ã¹ã©ã³ãã¯éºäŒåç ç©¶ã§ã¯ãå
é²åœããªãã ãããã¯ãã€ãã³ã°ã9äžçŽã«ã¢ã€ã¹ã©ã³ãã«ç§»äœããŠä»¥éãå€éšããã®ç§»æ°ãã»ãšãã©å
¥ã£ãŠããªãã£ããããªãã ãã€ãŸãèæ¯ãšãªãå³¶ã®äœæ°ã®éºäŒåãã»ãŒåäžã§âãã€ãºâãå
¥ãã«ãããã ãããããã¢ã€ã¹ã©ã³ã人ã¯å
ç¥ä»£ã
ã®å®¶ç³»å³ãä¿æãã100幎ã»ã©åããã¯å»çèšé²ãæ®ãããŠãããã ããŸãã«éºäŒç ç©¶ã«ã¯ãã£ãŠã€ãã®åœã ãïŒ
âã¢ã€ã¹ã©ã³ããè¯ããšãããããã§ããïŒæ¯éäžåºŠè¡ã£ãŠã¿ããã§ãïŒ
224.çµ±å倱調çã«é¢ä¿ããéºäŒåãšããŠCOMTéºäŒåå€ç°ãããããCOMTéºäŒåãååšãã22çªæè²äœã®éšåæ¬ å€±ãVelo-Cardio Facialçå矀(VCFS)ãèµ·ãããã©ããã®VCFSãé«çã§çµ±å倱調çãçºç ããããšããæ³šç®ããããã ã
ãã¡ã¿ã«ã®ããŸãã
VCFSã¯å£èè£/äºåå£èåãåŠç¿é害ãå¿å¥åœ¢ãç¹åŸŽçé¡è²ã®4ã€ã®çåãã¿ãããããåãã22çªæè²äœã®éšåæ¬ æã§ããDiGeorgeçå矀ã¯èžè
ºäœåœ¢æã«ããå
ç«äžå
šãå¿å¥åœ¢ãå¯ç²ç¶è
ºäœåœ¢æ(äœã«ã«ã·ãŠã è¡ç)ãç¹åŸŽçãªé¡è²ãåããããçŸåšã§ã¯åéåèå¹¹ç°åžžé¡è²çå矀(é«å°Ÿçå矀)ãšåãããŠã22q11.2çå矀ã£ãŠåŒã°ããŠãããã
âã¡ãªã¿ã«22çªæè²äœæ¬ æã®ããšããã€ãŠããã£ãã22çå矀ããšåŒãã ããå·®å¥çãªãã¥ã¢ã³ã¹ãå«ãããä»ã§ã¯äœ¿ããªããªã£ãèšèã ãâŠã
225.æšæ¥ç޹ä»ããçµ±å倱調çé¢é£éºäŒåCOMTã¯ãããã³çã«ãã³ãŒã«ã¢ãã³é¡ã®ä»£è¬(äžæŽ»å)ã«é¢ããé µçŽ ã ããçµ±å倱調çã®ã¡ã«ããºã ãšããŠãããã³éå°èª¬ããããã蟻è€ã¯åãããã«èŠãããã©ãæè¿ã§ã¯COMTéºäŒåå€åãšçµ±å倱調çã®é¢ä¿ã¯èããšèšããæ³šç®ãããªããªã£ãŠãããã
ãã¡ã¿ã«ã®ããŸãã
COMTç ç©¶ã§æãæ³šç®ãããŠããã®ã¯ãããããã®108çªç®ã®ã¢ããé
žãããªã³ããã¡ããªãã³ã«å€åããå€åã ã(Val/MetéºäŒåå€å)ãç¹ã«çµ±å倱調çã®åé åç®è³ªã®æ©èœãšVal/Metå€åãé¢äžããâŠããšãã説ããã£ããã©çŸåšã§ã¯ããŸã泚ç®ãããŠããªããªâŠãäžã€ã®éºäŒåç°åžžã ãã§çµ±å倱調çã®çºç
ãããšããåäžéºäŒå説ã¯ãã¯ãæ¡çšããããçŸä»£ã§ã¯common disease-common variant仮説ãéºäŒåã³ããŒæ°å€åå(CNV)仮説ãªã©ãæå±ãããŠãããã詳现ãªèª¬æã¯ããã€ã鹿å¶ããããã£ãŠããããšæããïŒ
âã¡ã¿ã«åãããããã®ããä»åæ¬é¡ããšãããïŒ
ãã¡ã¿ã«åã®èå¯ã
ä»åã¯ãçµ±å倱調çã®éºäŒåããããŒãã«ãããã€ãŒããäžå¿ã ã£ããã
以åãããçµ±å倱調çã¯éºäŒããããšããããšã¯åãã£ãŠãããã©ããã®åå éºäŒåã®ç ç©¶ãæ¬æ Œçã«ãªã£ãã®ã¯ããã20幎ã®è©±ãªãã ãã
ãã®ããã«çµ±å倱調çãšéºäŒåã®é¢ä¿ã¯é·å¹Žããã¹ããªãŒãã ã£ããã ã
æè¿ãæ§ã ãªãçµ±å倱調çåè£éºäŒåããèŠã€ãããã©ããããããã®ç°åžžã§100%çµ±å倱調çãçºç ããããã§ããªããããã®åè£éºäŒåã鬱ç ã忥µæ§é害ãšãé¢é£ããâŠããªããŠãããšãããããã
ã€ãŸãã粟ç¥çŸæ£å士ã£ãŠ(éºäŒåçã«ã¯)å·®ããªããã®ããç¥ããªããâŠã
ãããããããã¢ãã¯ãªç²Ÿç¥ç§ãã¿ããžã£ã³ãžã£ã³ç޹ä»ããŠãããð
âã¹ã©ã€ã ã®æåã ããã§ããæããªãã®ã§æ¬²ããã§ããïŒ
ãTwitterã
Twitterããã£ãŠããŸãïŒå®ããã°ã絡ãã§ãã ãããªâºïž
ããã¡ããããããã
ãã®èšäºãåå ããŠããåé
- #ãšãã»ã€
- #å¥åº·
- #å¿çåŠ
- #æè¿ã®åŠã³
- #ç§ã®ä»äº
- #ã¡ã³ã¿ã«ãã«ã¹
- #çµ±å倱調ç
- #ç§åŠ
- #å»åž«
- #粟ç¥ç§
- #ãµã€ãšã³ã¹
- #ãã«ã¹ã±ã¢
- #è±ç¥è
- #éºäŒå
- #å»åŠ
- #粟ç¥ç§å»
- #ã¡ã¿ã«
- #ãã€ãŒã
- #ããªãã¢
- #ã¢ã€ã¹ã©ã³ã
- #粟ç¥å»åŠ
- #å åææ
- #ãã€ãŒããŸãšã
- #ã¡ã¿ã«ã¹ã©ã€ã
- #ã¡ã¿ã«å
- #ã¡ã¿ã«ã¹ã©ã€ã ãšç²Ÿç¥å»åŠ
- #ã¡ã¿ã«åã®ä»æ¥ã®ç²Ÿç¥å»åŠè±ç¥è
- #éºäŒåç°åžž
- #COMT
- #DISC1