genska osnova diabetes mellitusa

8/19/2019 genska osnova diabetes mellitusa

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UNIVERZITET U SARAJEVU

PRIRODNO-MATEMATIČKI FAKULTET

ODSJEK ZA BIOLOGIJU

Genska osnova diabetes mellitusa

- Magistarski prgra!-

St"#$%t& A#%a% '"si( M$%tr& pr)* #r* I+$t E!i%,i(

SARAJEVO ./01*


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SADRŽAJ

1. Uvod*************************************************************************************************************************************0

0*0* K2asi)ika3i4a 5$($r%$ 62$sti*********************************************************************************************70*.* Di4ag%+a 5$($r%$ 62$sti*************************************************************************************************8

2. Šećerna bolest tip 1*********************************************************************************************************9

.*0* G$%$ti:ka pr$#isp+i3i4a +a %asta%ak 5$($r%$ 62$sti tip 0**********************************************1

3. Šećerna bolest tip 2*********************************************************************************************************;

7*0* G$%$ti:ka pr$#isp+i3i4a +a %asta%ak 5$($r%$ 62$sti tip .**********************************************<

. !akl"u#ak *************************************************************************************************************************0/

$. %iteratura*************************************************************************************************************************00


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1. Uvod=$($r%a 62$st i2i #i4a6$t$s >2at* diabetes mellitus?sk"pi%a 4$ !$ta62i:ki@

pr$!$(a4a karakt$ri+ira%i@ @ip$rg2ik$!i4! %asta2! +6g pr$!$(a4a " i+2":i,a%4"

i%+"2i%a ii2i #4$2,a%4" i%+"2i%a a k2i%i:ki s$ 4a,24a " :$tiri s%,%a 62ika k4i s$ ra+2ik"4" pr$!a s,44 $ti2gi4i t$rapi4sk! prist"p" i prg%+i >P24i:a%i% M$t$2k .//


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Pr$!a tr$%"t%4 k2asi)ika3i4i >0$%g2* juvenile? #i4a6$t$s* Na4%,i4asa+%a%4a "ka+"4" %a %asta%ak ii2i p4a," 62$sti " 6i2 k44 Ci,t%4 #6i >=kra6i( .//7?*M"2ti)aktri4a2% 4$ 624$%4$ k4$ %asta4$ ka ps24$#i3a g$%$tski@ )aktra i "s2,asp24a5%4$ sr$#i%$ >Ma4ki(-Si%g@ .//7?* Nasta%ak #i4a6$t$sa tipa 0 6i:% 4$ %aga i si+raC$%i! si!pt!i!a& ":$sta2 !kr$%4$ pr$k!4$r%a C$ i s"@(a "sta i+ra+it "!r i!a%4ak $%$rgi4$ sta2%a g2a# %ag2i g"6itak t$Ci%$ s!$t%4$ ,i#a i p%a,24a%$ i%)$k3i4$* Stgas$ ,a 62$st 6i:% #i4ag%sti3ira 4ak ra% >P$tri:i( V"2i(-Prtri( .//


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1.1. &lasi'ika(i"a )ećerne bolestiK2asi)ika3i%a 5$!a i+ 0IDDM? i tip II >i%s"2i%-%$+a,isa%?#ia6$t$s !$22it"s >NIDDM? >Ma4ki(-Si%g@ .//7?* Ra#%a gr"pa ADA 0


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#$624i%" k!p2ika3i4$ " pr$t@#%4 tr"#%(i i g#i%$ starsti >Ma4ki(-Si%g@ .//7?* Ja,24a s$" tpri2ik$ 8H tr"#%(a >Kki( .//


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2. Šećerna bolest tip 1Pr$!a stari44 k2asi)ika3i4i 5$($r%" 62$st tipa 0 %a+i,a2 s$ 4",$%i2%i!

#i4a6$t$s!* M$"ti! ,a 62$st !C$ %astati " 6i2 k44 Ci,t%4 #6i* U !2ai@ 24"#i:$st p:i%4$ %ag2 s isp24$%i! si!pt!i!a @ipg2ik$!i4$ >C$ p2i"ri4a p2i#ipsi4a?* Ustari4i@ 4$ p:$tak 62$sti 6i:% spri4i i+g2$#a ka #a s$ ra#i tip" . 5$($r%$ 62$sti*Ps24$#%4i@ s$ g#i%a +a ,a4 tip 62$sti pr$#2aC$ t$r!i% LADA >latent autoimmune diabetesin adults?*Pr$!a tr$%"t%4 k2asi)ika3i4i 5$($r%a 62$st tipa 0 #$)i%ira s$ %$#statk! i%+"2i%asa i2i 6$+ %a+%ak$ a"ti!"%$ #$str"k3i4$ -sta%i3a La%g$r@a%s,i@ t:i(a >Pa,2i(-R$%ar.//


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O# tksi%a k4i s$ :$st" s"sr$(" " @ra%i i ,#i +a pi($ a p,$+"4" s$ s ra+,4$! 62$sti,aC%st s$ pri#a4$ %itrati!a i %itriti!a >Ak$r62! $t a2* .//.?*

2.1. Geneti#ka predispoi(i"a a nastanak )ećerne bolesti tip 1Ri+ik #a %$k 62i # 5$($r%$ 62$sti tipa 0 " p(4 pp"2a3i4i 4$ /8H*Ri+ik

+a ,a4 tip " S4$,$r%4 A!$ri3i i E"rpi >i+"+$,5i Ska%#i%a,i4"? i+%si 0&9// #%s% /.H>Stipa%:i( ./0/ =kra6i( .//7?* Sk2%st 62i4$,a%4" s$ !C$ %as2i4$#iti a2i ,$(i%a

62$s%ika %4i@ k ;9H 62i4$,a4" spra#i:% >P24i:a%i% M$t$2k .//


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S2ika 7* ,3A re)ija 1romosoma 4 * Pkri,a gt, 9/H g$%$ti:k$ pr$#isp+i3i4$ +a%asta%ak 5$($r%$ 62$sti tipa 0 >Pr$"+$t i+& Stipa%:i( ./0/?

'LA-DB0/1/. ,isk 4$ +a5tita% +a ra+,4 tipa 0 5$($r%$ 62$sti i sa! 4$#%a #09/// s6a k4$ %s$ ta4 a2$2 ($ ra+,iti 62$st >Gr$$%6a"! $t a2* .///?* A2$2 DA0 k4i %a

p+i3i4i 9. k#ira argi%i% i a2$2 DB0 k4i %a p+i3i4i 9 %$ k#ira asparagi% +%at% p,$(a,a4" ri+ik +a p4a," 62$sti* Za5tit%i a2$2i QDR. i QDR9 "#r"C$%i s" sa s24$#$(i!DA0 QDB0 @ap2tip,i!a& DA0/0/.-DB0/1/. i DA0/90-DB0/70

>M$@$rsGi22$spi$ .//; i%t$r .//?*'LA r$gi4a s!4$5t$%a %a @r!s!" 1 #g,r%a 4$ +a 8/-9/H g$%sk$ pr$#isp+i3i4$ +a ra+,4 tipa 0 5$($r%$ 62$sti* Osta2i@ g$%a k4i i!a4" "2g" " ra+,4" ,$ 62$sti i!a ,i5$ # ./ a2i # sa#a sa! +a %$k$ pst4$ a#$ka,at% ptkri4$p24$%$ %a":%$st"#i4$ 6i:% pr,$#$%$ i %a ra+2i:iti! pp"2a3i4a!a >Stipa%:i( ./0/ =kra6i( .//7?*

Na4,aC%i4i s"&

Gen a inulin $%g2* variable number of tendem repeatsVNTR?tkri,$%! 0Stipa%:i( ./0/?*

Gen a protein vean u (itotoksi#ni * lim'o(it


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akti,ira%i! T 2i!)3iti!a k4a s!a%4"4$ %4i@," akti,%st*M"ta3i4a i2i #isr$g"2a3i4a TLA8 !g" p,$(ati sa!r$akti,%st T 2i!)3ita i

#pri%4$ti pr3$s" a"ti!"%sti >Stipa%:i( ./0/?*

Gen a protein tiroin 'os'atau822 i%t$r .// 'a22$r $t a2* .//9?*

Gen a re(eptor > interleukina 2 M$@$rs Gi22$spi$ .//; 'a22$r $ta2* .//9?*

Genska re-i"a a inter'eron indu(iranu 7elikau 't Ta2r .//.?*

3. Šećerna bolest tip 2=$($r%a 62$st tip . 4$ %a4:$5(i 62ik 5$($r%$ 62$sti >#$s$t p"ta 4$ ":$sta2i4i #

tipa 0?* U ra+,i4$%i! +$!24a!a tip . s$ 4a,24a k# ;9H 624$2i@ # #i4a6$t$sa #k "+$!24a!a " ra+,4" #stiC$ skr 0//H >Yi,a%,i( $t a2* ./0/?* U:$sta2st #i4a6$t$sa tipa .

,arira " ra+2i:iti! +$!24a!a i $t%i:ki! gr"pa!a # %a4,$($ k# Pi!a I%#i4a%a3a >9/70///s6a? # %a4%iC$ k# r"ra2%i@ A)rika%a3a >0.0/// s6a?>Ma4ki(-Si%g@ .//7?*Di4a6$t$s !$2it"s tipa . @$t$rg$%a 4$ sk"pi%a 624$%4a karakt$ri+ira%a ra+2i:iti!

st"p%4$,i!a i%+"2i%sk$ r$+ist$%3i4$ pr$!$($%i! #4$2,a%4$! ii2i 2":$%4$! i%+"2i%a "+ p,$(a%4$ pri+,#%4$ g2"k+$ " 4$tri pr3$s! g2"k%$g$%$+$ >Kki( .//


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>Kki( .//P$tri:i( V"2i(-Prtri( .//


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TFL. k#ira tra%skrip3i4ski )aktr >$%g2* transcription factor 8like "? k4i 4$"k24":$% " ra+,4 i )"%k3i4" -sta%i3a g"5t$ra:$* KN0 k#ira p#4$#i%i3" K ka%a2a k4is" i+!$" sta2g $kspri!ira%i i " t:i(i!a pa%kr$asa >S2ika 9*? >'$r#$r R#$% ./0/?*

S2ika 9* &056 podjedinica u & 9 kanalu >Pr$"+$t sa&@ttp&*@i%#ai*3!4"r%a2s%4s./08.7870)ig1?

. !akl"u#ak

=$($r%a 62$st 4$ !"2ti)aktri4a2%a 62$st k4a s$ p# "t4$3a4$! k2i5%i@)aktra ra+,i4a " g$%$tskis4$t24i,i@ p4$#i%a3a*=$($r%a 62$st ,$2iki 4$ 4a,%+#ra,st,$%i

pr62$! s 6+ir! %a ,$2iki 6r4 624$2i@ a2i i i+raC$%i tr$%# #a24%4$g prasta pr$,a2$%3i4$ ii%3i#$%3i4$* Na4ra5ir$%i4a 4$ !$" @r%i:%i! 62$sti!a a #a%as ppri!a $pi#$!i4sk$ra+!4$r$*Os6$ 624$2$ # 5$($r%$ 62$sti +%a:a4% ra%i4$ "!ir" # kar#i,ask"2ar%i@

62$sti %$g %$ 6$+ #i4a6$t$sa*B2$s%ik s #i4a6$t$s! "!ir$ 9 # 0/ g#i%a ra%i4$ # s,4i@,r5%4aka 6$+ #i4a6$t$sa* B2$st s$ spr ra+,i4a i!a #"g" asi!pt!atsk" )a+"*


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sr$#i%$*Pr$!a istraCi,a%4i!a i+ ./0/* g#i%$ pr%a$% 4$ ,i5$ # 71 g$%a k4i #pri%s$ri+ik" +a #i4a6$t$s tipa .* Na4+%a:a4%i i+ ,$ sk"pi%$ s" g$%i TFL. i KN0*

$. %iteratura

Ak$r62! '* K* Vaara2a O* '[t '* I2%$% J* K%ip M* >.//.?* E%,ir%!$%ta2 )a3trsi% t@$ $ti2g ) tp$ 0 #ia6$t$s* Am : ;ed 0?& 0;-..///?* Is2$t 3$22 a%t6#-psiti,$ r$2ati,$s it@ @"!a% 2$"k3t$ a%tig$%DA0/0/.DB0/1/.& i#$%ti)i3ati% 6 t@$ Dia6$t$s Pr$,$%ti% Tria2-Tp$ 0* 0lin :

=ndocrinol ;etab* ;9 >7?& 0.99-0.1/*

'a22$r M* J* Atki%s% M* A* S3@at+ D* >.//9?* Tp$ 0 #ia6$t$s !$22it"s& $ti2g

pr$s$%tati% a%# !$%ag$!$%t* Pediatr 0lin 5 Am* 9.& 0997-09*

'$24i( B* 'risa),i( Z* V$2i4a Z* B"r$k,i( A* St$,a%,i( D* >.//9?* >odič zadiabetes mellitus* Mi%istarst, +#ra,st,a Ka%t%a Sara4$,*

'$r#$r * R#$% M* >./0/?* G$%$ti3s ) tp$ . #ia6$t$s& pat@p@si2gi3 a%# 32i%i3a2r$2$,a%3$* =ur : 0lin Invest * 80 >1?& 1.//


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La2i( N* >.//9?* Pr$,$%3i4a tipa . #i4a6$t$sa* 0 i+#* B$gra# Srpsk 2$karsk #r"5t,*

Maga5 S* >./0.?* Dia6$t$s a%# 3r%ar art$r #is$as$& t@$ i!prta%3$ ) g23$!i3 3%tr2* &ardio list * >0-.?& .-7.*

Ma4ki(-Si%g@ N* >.//7?* Eti2gi4a #ia6$t$s !$22it"sa* :u)oslov ;ed @io1em* .. >0?& 9-00*

M$@$rs K* L* Gi22$spi$ K* M* >.//;?* T@$ g$%$ti3 6asis )r tp$ 0 #ia6$t$s* @r ;ed @ull *;;& 009-0..//

genska osnova diabetes mellitusa

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