fisio lez 7 collagene
TRANSCRIPT
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COLLAGENE
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COLLAGENE (25-30 % PROTEINE TOTALE)
Tropocollagene
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CARATTERISTICHE DEL TROPOCOLLAGENE
� 1. TRE catene a elica sinistrosa avvolte l’una attorno all’altra formando una elica destrosa
ALTA RESISTENZA
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TROPOCOLLAGENE
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2. PRESENZA DI AA MODIFICATI
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2. PRESENZA DI AA MODIFICATI
VIT C
VIT C
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3. STRUTTURA PRIMARIA
RIPETITIVA
Glicina-Prolina- aa
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SINTESI
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Formazione dei legami trasversi
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Assemblaggio del collagene
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ASSEMBLAGGIO COLLAGENE
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ELASTINA
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ELASTINA
�AVVOLGIMENTO CASUALE
�GLICINA, PROLINA
�NO IDROSSILISINA
�LEGAMI TRASVERSI CASUALI
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ELASTINA
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In verde fibre Collagene
In viola fibre Elastiche
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TESSUTO OSSEO
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SALI DI IDROSSIAPATITE
3[Ca3 (PO4)2Ca(OH)2]
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50%
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�Patologia ereditaria del tessuto connettivo ed in particolare del collagene tipo I che presenta una incidenza stimata intorno a 1/10.000 nati
Osteogenesis imperfecta
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Osteogenesis imperfecta
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M a n ifesta z ion i c lin ic h eM an ife s ta z ion i c lin ic h e
C om uni fra g ilità o ssea - o steope n ia 10 0 %
Frequent i sc le re b lu 6 0 -9 0 %d ent in o ge nes i im pe rfe tta 10 -5 0 %ipoac u s ia 4 0 %ipe r lass ità art ico lar e e cu tane a 5 0 -7 0 %b assa statur a 3 0 -10 0 %
M inori ec ch im os i, liv id i, ch e lo id iipe rte rm ia , ipe r id ros iip oton ia e ip o trof ia m u sc olare 10 %
Sp orad ich e va lvu lopat ie c ard iach em a cro c efa lia , idr oce fa lo,a lte raz io n i d e ll ’em os tas i,d e f ic it o cu la r i, n ef ro lit ias i 5 %
C om un iC om uni f rag ilitfra g ilit àà os se a o s se a -- o s te open iaoste ope n ia 10 0 %10 0 %
F requent iF re quent i sc le re b lusc le re b lu 6 060 --9 0 %9 0 %d e nt in oge ne sid en t ino ge nes i im p erf etta im pe rfe tta 1010 --5 0 %5 0 %ipoacu s iaip oa cu s ia 4 0 %4 0 %iper las s itip er lass it àà ar t ico lare e c uta ne aart ico lar e e cu tane a 5 050 --7 0 %7 0 %b a ss a statu rab assa statur a 303 0 -- 10 0 % 10 0 %
M inor iM in or i e cc h im osi, l iv id i , ch e lo id ie cch im osi, liv id i, ch e loid iiper ter m ia , ipe r id ros iip erte rm ia , ipe r idr os iipo ton ia e ip o trof ia m us co la re ipoton ia e ip o trof ia m u sc o lare 10 %10 %
S porad ic he S porad ich e va lv u lopa t ieva lvu lopat ie ca rd iac h ecar d iac hem ac ro ce fa lia , id roce f a lo ,m acro c efa lia , id roce fa lo ,a lte raz ion i d e l la ltera z io n i de ll ’’e m osta si,em ostas i,de f ic it oc ular i , n e fro lit ia s i d e f ic it o c ula r i, n ef ro lit ias i 5 %5 %