Molecular and Cellular Mechanisms
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1 Molecular and Cellular Mechanisms Biologia Celular e Molecular /2013 Ana Margarida Guilherme Carla Hovenkamp Joana Goucha Sofia Néri
2 The Extracellular Matrix
3 Outline of the primary structure of fibrillin 1. Note the multiple calcium-binding sites and the interactive sites with other extracellular matrix components.
4 Chromosome no. 15 which states the mutation that causes Marfan Syndrome
5 FBN1 gene with multiple domains
6 Distinct contributions of osteoblast-produced fibrillin-1 and fibrillin-2 microfibrils to osteogenic differentiation through the differential regulation of endogenous TGF-β and BMP signals that together calibrate the rate of bone formation
7 Described by Dr. Antoine Marfan in 1896; Affects both men and women of any race or ethnic origin; Connective tissue connects, provides structural support and determines the elasticity of the body's organs, bones and ligaments.
8 The connective tissue in the heart, lungs, eyes and mostly skeletal and nervous systems can stretch and weaken, due to the malfunctioning of the fibrilin protein; This syndrome can be of autosomal dominant inheritance or it may appear for the first time in a family in a child of unaffected parents (25 to 30% of the cases).
9 Skeleton Tall; Slim; Long, thin limbs; Long fingers and toes; Abnormal joint flexibility. Small lower jaw; High, arched palate; Deep-set eyes; Flat feet; Pectus excavatum (sternum indentation); Pectus carinatum (sternum protusion); Crowded teeth; Scoliosis.
10 Stretch marks Shoulders; Hips; Lower back. Eyes Lens dislocation; Myopia; Glaucoma; Cataracts; Retinal detachment. Cardiovascular system Aortic aneurysm; Heart valve problems ; Aortic dissection. org/az/site543/mainpages543 P0.html 5/3/images/NigerJClinPract_2012_15_3_364 _100653_f4.jpg t.pt/index.php?id=4 &testid=9 seases_v2/gendis_detail_list.php?cat3=1258
11 Physical examination Medical and family history Ghent criteria Genetic testing Gene FBN1 at 15q21.1 TGFβR1 at 9q33-34 TGFβR2 at 3p22 Clinical Sensitivity Up to 90% of patients with a clinical diagnosis of MFS have a FBN1 mutation. Those who are FBN1 negative may have a TGFβR2 mutation (up to 21%) or atgfβr1 mutation (up to 4%). Prenatal testing Chorionic villus sampling (CVS) Amniocentesis
12
13 Treatment will help improve the quality of life and lengthen lifespan; Monitoring by doctors is onde of the most important steps. (4/03, 21h18)
14 Nevertheless, these patients must have some special cares regarding: Hearth problems; Eyesight; Orthopedics; Lung problems. (1) (2) (3)
15 In 2007, at Johns Hopkins, a clinical trial was started to study the uses of losartan to decrease the formation of aortic aneurysms. (04/03, 21h47)
16 DEAN, John CS. Marfan syndrome: clincial diagnosis and management in European Journal of Human Genetics, 2007; ALBERTS, B. et al. Molecular Biology of the Cell. ARTMED Editora, Pages 1102 and 1103; (04/03/ h25); (04/03/2013-9h55); (04/03/ h10); (03/03/ h15); (02/03/ h15); (03/03/ h50); (01/03/ h35); (03/03/ h30); (02/03/ h27); (02/03/ h43); (04/03/2013-9h53); (01/03/ h31)
17 _3&subarea2=1_3_1 (03/03/ h56) area2=1_3_2 (01/03/ h47) (01/03/ h43) (28/02/ h20) (28/02/ h18) (28/02/ h14) (28/02/ h) (28/02/ h16) (04/03/ h04) (04/03/ h05) me (01/03/ h30) marfan_syndrome (01/03/ h40) hological_effects_of_marfan_syndrome (01/03/ h43) ( h17)
18 (01/03/ h32) (01/03/ h35) (4/03/2013-9h46) (03/03/ h50) (02/03/ h17) (02/03/ h35) (02/03/ h44) (04/03/2013-9h52)
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