Question

75.Diseases linked with abnormalities of protein synthesis in connective tissue.

(please more explanatıon Im medicine student) thank you...

Answer 1

connective tissue made up of 2 proteins collagen and elastin collagen found in tendons ,ligaments ,skin ,cornea cartilage ,bone and blood vessels .elastin is a major component of ligaments and skin

1ethlers danlose syndrome- caused by defective synthesis of collagen it affects joints heartvalves organ walls and arterial walls . symptoms include flexible joints that can dislocate , skin transluscent ,elastic and bruises easily complication is rupture of blood vessels diagnosis by genetic tests

2marfan syndrome , causing abnormal fibrillin  ,an elastin affect heart eyes and blood vessels , person is tall and slender ,disproportionately long arms ,legs , ,heart murmurs ,extreme near sightedness ,abnormally curved spine , can cause complication like aortic aneurysm , aortic dissection ,lens dislocation ,early onset of cataract and glaucoma , diagnosis by heart imaging techniques , eye pressure test, slit lamp test  . genetic testing is confirmatory

3osteogenesis imperfecta   - caused by insufficient amount of normal collagen fractures of bones is main symptom it is from mutation of genes which is responsible for type 1 collagen synthesis

4stickler syndrome- affect collagen and result in distinctive flattened fascial appearance ,eye abnormalities ,hearing loss and joint problem

5 alport syndrome- defect in type 4 collagen found in renal basemembrane leading to glomerulonephritis due to mutation in genes to a protein collagen

6 beans syndrome - it isakin   to marfan syndrome with contractures of hip ,knee ,elbows ,ankle joint ,crumpled ear

7loey dietz syndrome .- by mutation of chromosome tfgbr on 3 or 9 and their by affect protein synthesis , it is marked by aneurysms in aorta ,often found in children