<<

and

Pathways of Bilirubin Synthesis and Catabolism

Bone Reticuloendothelial Marrow RBCs System (RES) Hgb Hgb Fe Precursors Globin + Non-Hgb Heme Heme Bilirubin Fe + Porphogens Shunt Free Bilirubin – Complex Pathway

Conjugated Bilirubin 68mg 2mg

70mg

Fecal Urobilinogen Pigments

1 Labeling of RBC and fecal stercobilin

0.3 N of haemin N of N of stercobilin N of 15 15 B 0.1 0.2 X X 0.08 X X 0.06 X 0.1 X 0.04 A X X X X X X 0.02 X X X B: Atom % excess excess B: Atom % A: Atom % excess excess A: Atom % 20 40 60 80 100 120 140 160 180 Times ( days)

Labeling of red cell hemoglobin and fecal stercobilin in a normal human given 15N orally

Sources of bilirubin production in the rat

Early Bilirubin Late Bilirubin 15% 65% 0-3 Days 40-80 Days

Increased Erythropoiesis

Red Cell Non- Hemoglobin Sources ()

Sources of bilirubin production in the rat, as adduced from studies of the labeling of plasma bilirubin in Gunn rats and bilirubin in normal rats.

2 NADPH NADP +

N N Fe OH NADPH O2 NADP NN

N N Fe COO COO NN O2 CO heme-oxygenase complex Fe (II)

COO COO OH HO hydroxyheme-oxygenase complex N N

OH HO NADPH H NADP NH N N N in H Biliverd OOC COO N N reductase C biliverdin HH OOC COO bilirubin

3 (ligandin)

OATP MDR2

A.

B.

4 CH2 CH Me β CO (excreted via lungs) Me A B CH2 CH2 CO2H NH N α Fe γ Fe (reutilized) N NH C CH CH CO H H2C CH D 2 2 2 CO H CO H δ 2 2 Me Me CH2 CH2 CH2 CH2 Me CH Me CH2 CH2 Me Me CH CH BCDCH A. A CH2 O N N N N O H H H H BILIRUBIN – IX α (planar structure)

D B. A B

C

BILIRUBIN – IX α (convoluted structure)

COOH COOH O O C. OH O O OO HO HO C C OH OH HO CH2 CH CH CH2 2 2 Me Me CH CH2 CH2 Me Me CH CH CH CH2 O N N N N O H H H H BILIRUBIN - IX α DIGLUCURONIDE

BILIRUBIN CONJUGATION IN MICROSOMES INVOLVES TWO STEPS, MEDIATED BY ONE BILIRUBIN-UDPGA TRANSFERASE

BILIRUBINS: C O H UDPGA H O H UNCONJUGATED C N N O (UCB) O N N H O H H 1 O C C O GA UDPGA O UDP MONO- H H TRANSFERASE C N N O UDPGA GLUCURONIDE O N N H O H H (BMG) O C

2 C O GA O H H C N N O UDP DIGLUCURONIDE O N N H H (BDG) O Conjugation prevents GA O C internal H-bonding by the -COOH groups of Bilirubin

5 OATP MDR2

(=cMOAT)

UROBILINOGENS ARE FORMED BY DECONJUGATION AND REDUCTION OF BILIRUBINS BY INTESTINAL

CONJUGATED BILIRUBIN A UROBILINOGEN COOGA COOGA COOH COOH

M M M M N UNCONJUGATED N N H H N BILIRUBIN H H H H2C CH N H H H H 2 N N H N V M COOH COOH E M O O O M V O M M M E N N Deconju- H H H Reduction gation N H N V M = Methyl M O O + 8H E = Ethyl 2 GA M V V = Vinyl

6 FRACTIONAL DIAZO REACTION OF PLASMA

RR SO H 3 Fast Direct + reaction N+

N CONJUGATED BILIRUBIN

SO3H DIAZO REAGENT Slow Indirect + reaction N+

N UNCONJUGATED BILIRUBIN

7 TOTAL DIAZO REACTION OF PLASMA

RR

CONJUGATED SO3H BILIRUBIN

+ + ACCELERATOR

N+ (ALCOHOL, CAFFEINE)

N UNCONJUGATED BILIRUBIN

TOTAL – DIRECT = INDIRECT

Bilirubinuria in Jaundice

UNCONJUGATED PLASMA BILIRUBIN (B) CONJUGATED

P L A S M A

(A=ALBUMIN)

U R I NO BILIRUBIN N BILIRUBIN ++ E

8 9 Phototherapy for

Treatment for Neonatal Jaundice

Prevention of kernicterus

10 COOH COOH

CH2 CH2 CH2 CH2 Me CH Me CH2 CH2 Me Me CH CH BCDCH A CH2 O N N N N O H H H H Bilirubin IX α

COOH COOH CH 2 CH2 CH2 CH2 Me CH2 Me CH2 Me CH Me CH CH CH CH2 O N N N N O H H H H Bilirubin IX β

Structure of the α and β isomers of bilirubin IX. In the IXβ isomer (and in the γ and δ isomers, not shown) the propionic groups are moved to positions

other than those indicated on the central rings B and C of bilirubin IXα. h

p Sn-PP Liver Co-PP Liver

g m

/ 2.5 16

n

i

b

u

r

i l

i 2.0

b

l 12

o

m n

( 1.5

e

s 8

a n

e 1.0

g

y

x O

4

e 0.5

m

e H

0 8 16 24 0 2 4 6 8 10 (hours) (days) Time

Effect of Sn-protoporphyrin (Sn-PP) and CO-protoporphyrin (Co-PP) when administered once at a dose of 50 μmol/kg body wt on hepatic activity in the rat.

11 Bile-Duct RAT PBC Sn-PP 10.0 Ligation (50 ) 18

Control 7.5 16

14 5.0 Sn-PP 12

Plasma Bilirubin mg/dl 2.5 10

-4 0 2 4 0 1 2 3 4 5 67 Time (days)

Effect of Sn-protoporphyrin (Sn-PP) (100 μmol/kg body wt) administered at 4d before and on the day of surgery on hyperbilirubinemia in the bile-duct-ligated rat. Effect of Sn-PP (2 x 0.25 μmol/kg body wt) on the levels of serum bilirubin in a patient with primary biliary cirrhosis (PBC).

UGT1 gene 5’ 3’

1J 1I 1H 1G 1F 1E 1D 1C 1B 1A 234 5

mRNA B-UGT1

Phenol

UGTs

NH2 COOH

substrate UDPGA membrane binding site spanning region

285 amino 246 amino acids

12 Unconjugated Hyperbilirubinemia

Characteristics Crigler-Najjar Type I Gilbert Syndrome

Plasma bilirubin 340-860 μM 50-85 μM (fluctuates)

Plasma BSP retention at 45 Normal Usually normal; elevated min in a minority of cases

Hepatic bilirubin-UDPGT Undetectable 30-50% of normal activity

Effect of Phenobarbital on No effect Reduction plasma bilirubin

Pigments in bile Small amounts of unconjugated Increased proportion of bilirubin monoglucuronide

Prevalence Rare 2-7% of population

Prognosis Kernicterus Benign

Animal Model Gunn rat Bolivian Squirrel Monkey

Mutation UDPGT null UDPGT promoter

A(TA)6TAA

Chronic conjugated hyperbilirubinemias

Characteristic Dubin-Johnson Syndrome Appearance of liver Grossly black Normal Histology of liver Dark pigment; predominantly in Normal centrilobular areas; otherwise normal Serum bilirubin Elevated, usually between 2 and 5 mg%, Elevated, usually between 2 occasionally as high as 20 mg%; and 5 mg%, occasionally as predominantly direct-reacting high as 20 mg%; predominantly direct- reacting Routine liver function Normal except for bilirubin Normal except for bilirubin tests 45-min plasma BSP Normal or elevated; secondary rise at 90 min Elevated; no secondary rise at retention 90 min Urinary Normal total >80% as coproporphyrin I Elevated total; elevated coproporphyrin proportion of coproporphyrin I but <80% Mode of inheritance Autosomal recessive Autosomal recessive Prevalence Uncommon (1:1300 in Persian Jews) Rare Prognosis Benign Benign Mutation MRP2

13 Jaundice

Conjugated bilirubin Unconjugated bilirubin

Cholestatic Defect in Hepatocellular Conjugation

Intrahepatic Extrahepatic

14 Jaundice

Conjugated bilirubin Unconjugated bilirubin

Cholestatic Hemolysis Defect in Hepatocellular Conjugation

Intrahepatic Extrahepatic

15

• Bilirubin • PT (Prothrombin time) •Glucose • Cholesterol • ALT (alanine aminotransferase) • AST (aspartate aminotransferase) • Alkaline phosphatase •GGT (γ-glutamyltranspeptidase)

Imaging • Ultrasound •CT scan • Liver- scan • Radionuclide biliary scan • ERCP (endoscopic retrograde cholangiopancreatography) • Transhepatic cholangiography

16 Jaundice ↑ BR

Conjugated bilirubin Unconjugated bilirubin

↑ ALT ↑ AP

Cholestatic Hemolysis Defect in Hepatocellular Conjugation Nl BD Dilated BD

Intrahepatic Extrahepatic

17 Bilirubin •Conjugated & Conjugated •Urine – Urobilinogen •Stool – Stercobilin

plus 3 O minus Fe

V minus CO α M

M D A V COOH COOH N N CH CH δ CH2 2 2 CH2 Fe β Me CH Me CH2 CH2 Me Me CH N N CH CH A BCCH D M C B M 2 O N N N N O H H H H γ CH2 CH2

CH2 CH2 COOH COOH Bilirubin IX α Ferroprotoporphyrin IX (Protoheme)

Conversion of protoheme (ferroprotoporphyrin IX) to bilirubin IXα. Cleavage of the protoporphyrin ring occurs selectively at the α-methene bridge. The bridge carbon atom is oxidized to .

18 BILIRUBIN IS PRODUCED BY OXIDATION OF HEME AND REDUCTION OF THE RESULTANT BILIVERDIN

HEME BILIRUBIN IXα M = Methyl Pr Pr H2 E = Ethyl C M M γ M Pr = Propionyl M N N N N H H β Fe δ H N H N N N BILIVERDIN IXα V α M V M Pr Pr O O C M M H V V M M Biliverdin O & Heme 2 N N Reductase + NADPH Oxygenase H NADP H N H N V M NADP+ Fe3+ O O NADPH CO M V

19 cMOAT MDR2

20 21 22