Biochemistry Collagen Disorders

Front 1

scurvy

Back 1

1) Vitamin c deificiency

2) Hydroxylation of lysine and proline prevented, interchain H bonds are reduced

3) Subcutaneous extravascation of blood due to capillary fragility

Front 2

Ehlers-danlos syndrome (EDS)

Type I & II

Back 2

1) Disruption of collagen synthesis

2) Defiencies in collagen producing enzymes (lysyl hydroxylase or pro-collagen peptidase, mutant collagen alpha chains (type I, III, & V), haploinsufficiencies

3) Affects connective tissues (skin, joints, blood vessel walls)


Skin hyperextensibilitym joint hypermobility, delayed motor development

Front 3

Osteogenesis imperfecta (type I, Ol Tarda)

Back 3

1) Type I collagen deficiency

2) Mutated col1A1 gene, decrease in type I collagen synthesis

3) Bone fractures during childhood, blue or grey tint to sclera, may develop hearing loss in adulthood

Front 4

Osteogeneisis imperfecta (type II, congenita)

Back 4

1) Glycine is replaced by amino acids possessing bulky side chains, prevention of triple helix formation, shortened chains are synthesized (prevents triple helix formation), all alpha chains are degraded (protein suicide), decrease in type I collagen

2) Type II mutation in either col1A1 or col1A2, find point mutations and exon rearrangements in regions coding for triple helical regions

3) Affected infants die in utero or shortly after from pulmonary hypoplasia

Front 5

Anemia

Back 5

Fatigue, cold intolerance, reduced o2 supply, reduced heat production, paleness

Front 6

Nutritional anemia

Back 6

1) Aka pernicious anemia

2) Failure in the biogenesis of rbc as a result of a lack of B12

Front 7

Hemorrhagic anemia

Back 7

1) Internal bleeding, bleeding womb ulcer

Front 8

Hemolytic anemia

Back 8

1) Premature hemolysis (rupture of erythrocyte membranes)

Front 9

Thalassaemia

Back 9

1) Defect in Hb synthesis

2) Classified as alpha-n and beta-thalassaemias

Front 10

Sickle-celled anemia

Back 10

1) Caused by abnormal Hb structure

Front 11

Aplastic anemia

Back 11

1) Bone marrow destruction

Front 12

Carbon monoxide posioning

Back 12

* Hb’s inability to unload oxygen to respiring tissues because of the left shift in O2 dissociation curve, and switch from sigmoidal to hyperbolic (HbCO behaves more like myoglobin)

* Cherry red skin color

Front 13

hyperventilation

Back 13

* Lowers pco2 in lungs and plasma, loss of blood H2CO3 which results in increase in blood ph -> respiratory alkalosis, decrease in blood CO2 and H+ reduces release of 02 to tissues

* Numbness, dizziness, muscle spasms

Front 14

Diptheria toxin

Back 14

1) Acute infectious disease affecting the upper respiratory tract and occasionally the skin

2) Caused by toxigenic corynebacterium diphtheriae or by C. ulcerans

3) Toxin is produced by lysogenic bacteriophage that infects the bacterium, catalyzes the transfer of ADP-ribose to host cells EF-2, inactivating it (ribosome cant translocate)

4) High doses of nicotinamide

Front 15

Cystic fibrosis

(CFTR = cystic fibrosis transmembrane conductance regulator)

Back 15

1) Recessive genetic disorder; the CF gene is expressed in epithelial cells of sweat glands, bile ducts, vans defens, pancreatic duct, pulmonary passages; gene codes for CFTR

2) Thick mucous obstruction of respiratory airways and pancreatic duct

3) Progressive destruction of lungs and pancreas; death occurs by age 30; in absence of Cl- secretion, dried mucous blocks ducts and airways, atrophy of secretory organs/ducts usually occurs

Front 16

pancreatitis

Back 16

*Pancreatic secretions are reduced

Front 17

steatorrhea

Back 17

Excess fat in feces

Front 18

Tangier diseases

Back 18

1) Familial – alpha-lipoprotein deficiency

2) Defective ABCA1 transporter, cannot transport cholesterol out of their cells, leads to accumulation of cholesterol in body tissues

3) Severe reduction in the high density lipoprotein (HDL-“good cholesterol)

Front 19

Dubin-Johnson syndrome (DJS)

Back 19

1) Defect in the multispecific anion transporter

2) Causes increase in bilirubin without increasing liver enzymes

Front 20

Adrenoleukodystrophy (ALD)

Back 20

1) Aka Schilder’s disease, type of leukodystrophiy

2) Damage occurs to the myelin sheath, defects in ATP binding cassette and defect in a membrane transporter so that there is inhibition of very long chain fatty acid degradation

3) Leads to progressive brain damage, failure of adrenal glands

Front 21

Zellweger syndrome

Back 21

* Reduction or absence of peroxisomes in the cells of an individual (peroxisomes help degrade fatty acids)

Front 22

sitosterolaemia

Back 22

* Failure to pump out plant sterol back into gut lumen

* Hyperabsorption and decreased biliary excretion of dietary sterols leading to hypercholesterolemia

Front 23

cholera

Back 23

1) Vibrio cholerae secretes a cholera toxin (84kDa protein) that binds to a ganglioside on enterocyte membranes

2) Stimulates secretion of Cl- into the gut lumen by causing phosphorylation of CFTR (CFTR = cystic fibrosis transmembrane conductance regulator)

3) Massive loss of ions and water in the feces

Front 24

Barth syndrome

Back 24

1) Cardiomyopathy, neutropenia (neutrophil dysfunction)

2) Acyltransferase gene mutation involved in remodeling CL

Front 25

Multiple sclerosis

Back 25

1) Degraded myelin sheath, hardened plaques, possibly an autoimmune effect – antibody attack of myelin sheath

2) Slowing and cessation of nerve transmission along the axon

Front 26

Niemann-Pick disease

1) What's wrong?
2) Biochemical Problem?
3) Clinical Notes....
4) Drug

Back 26

1) Lipid lysosomal disease (lipidosis), in the absence of sphingomyelinase, sphingomyelin accumulates in lysosomes

2) Deficiency of sphingomyelinase which breaks down the sphingomyelin

3) Enlarged liver and spleen filled with lipid, severe mental retardation, death in early childhood

4)

Front 27

Respiratory distress syndrome (RDS)

1) What's wrong?
2) Biochemical Problem?
3) Clinical Notes....
4) Drug

Back 27

1) Premature babies have underdeveloped lungs, lack normal amounts of lung surfactant

2) Cannot lower surface tension of lungs (thus easing lung expansion) when surfactant is insufficient

3) Decreased lung compliance, hypoxaemia (decreased partial pressure of oxygen in the blood),
*vaginal delivery is important to increase cortisol which increases lung surfactant production


4)

Front 28

Paget’s disease (osteitis deformans)

1) What's wrong?
2) Biochemical Problem?
3) Clinical Notes....
4) Drug

Back 28

1) Excessive and disorganized resorption and bone formation

2) Remember: “man-lady” (Quentin Massy’s painting of the grotesque woman)

3) Deformity of the skull include bossing of the forehead, prominent enlargement of the orbital ridge, maxilla is extensively enlarged, nostrils are distorted

4)

Front 29

Myocardial Infarction (MI)

1) What's wrong?
2) Biochemical Problem?
3) Clinical Notes....
4) Drug

Back 29

1) Causes irreversible necrotic damage to the myocardium

2) Severe chest pain, ECG changes, increase in cardiac biomarkers

3)

4)