Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy...
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Transcript of Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy...
![Page 1: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/1.jpg)
Adrenoleukodystrophy – an X-linked, sex-linked,recessive, genetic disorder
Mr. Murphy Mrs. Murphy
Canise Mariah Michaela DiedreAugusto
Lorenzo Christina Francesco
XAX?
XAX?
XAX?
XAXA
XAXaXAY
XAX?
XAXaXAXaXAXa XAYXAY XAY
XaYXAY XAY
Affected femaleUnaffected female
Unaffected maleAffected male
![Page 2: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/2.jpg)
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
![Page 3: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/3.jpg)
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Plugged drain = missing enzyme in boys with ALD
![Page 4: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/4.jpg)
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Plugged drain = missing enzyme in boys with ALD
Rising water level in sink = Rising level oflong-chain saturatedfats in blood from diet,which destroy myelin
![Page 5: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/5.jpg)
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Plugged drain = missing enzyme in boys with ALD
Rising water level in sink = Rising level oflong-chain saturatedfats in blood from diet,which destroy myelin
Tap turned off = therapyby diet, remove long-chainsaturated fats from diet
![Page 6: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/6.jpg)
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Plugged drain = missing enzyme in boys with ALD
Rising water level in sink = Rising level oflong-chain saturatedfats in blood from diet,which dissolve myelin
Tap turned off = therapyby diet, remove long-chainsaturated fats from diet
Tap turned on = increasedbiosynthesis maintaininghigh levels of long-chainsaturated fats in blood
![Page 7: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/7.jpg)
H H H H H H H H H H H H H H H H H H H H H H H O I I I I I I I I I I I I I I I I I I I I I I I IIH—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—O I I I I I I I I I I I I I I I I I I I I I I I H H H H H H H H H H H H H H H H H H H H H H H H
Saturated C24H48O2
Tetracosanoic acid, or lignoceric acid
H H H H H H H H H H H H H H H H H O I I I I I I I I I I I I I I I I I IIH—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—O I I I I I I I I I I I I I I I I I H H H H H H H H H H H H H H H H H H
Saturated C18H36O2
Octadecanoic acid, or stearic acid
H H H H H H H H H H H H H H H H H H H H H O I I I I I I I I I I I I I I I I I I I I I IIH—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—O I I I I I I I I I I I I I I I I I I I I I H H H H H H H H H H H H H H H H H H H H H H
Saturated C22H44O2
Docosanoic acid, or behenic acid
Long-Chain Saturated Fatty Acids
![Page 8: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/8.jpg)
Monounsaturated C18H34O2
cis-9-Octadecenoic acid, or oleic acid
H H H H H H H H
I I I I I I I I
H—C—
C—C—
C—C—
C—C—
C—
I I I I I I I I
H H H H H H H H
HH
H
H
H H
H
H
H O
I
I
I
I
I
I
I
II
—C—
C—C—
C—C—
C—C—
C—O
I
I
I
I
I
I
I
H
H
H H
H
H
H
H
C C——
Long-Chain Monounsaturated Fatty Acids
![Page 9: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/9.jpg)
H H H H H H H H
I I I I I I I I
H—C—
C—C—
C—C—
C—C—
C—
I I I I I I I I
H H H H H H H H
HH
H
H
H H
H
H
H H
H
H
H O
I
I
I
I
I
I
I
I
I
I
I
II
—C—
C—C—
C—C—
C—C—
C—C—
C—C—
C—O
I
I
I
I
I
I
I
I
I
I
I
H
H
H H
H
H
H
H
H H
H
H
C C——
Monounsaturated C22 C42O2
cis-13-Docosenoic acid, or erucic acid
Long-Chain Monounsaturated Fatty Acids
![Page 10: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/10.jpg)
Monounsaturated C24 C46O2
cis-15-Tetracosenoic acid, or nervonic acid
H H H H H H H H
I I I I I I I I
H—C—
C—C—
C—C—
C—C—
C—
I I I I I I I I
H H H H H H H H
HH
H
H
H H
H
H
H H
H
H
H
H H
O
I
I
I
I
I
I
I
I
I
I
I
I
I
II
—C—
C—C—
C—C—
C—C—
C—C—
C—C—
C—C—
C—O
I
I
I
I
I
I
I
I
I
I
I
I
I
H
H
H H
H
H
H
H
H H
H
H
H
H
C C——
Long-Chain Monounsaturated Fatty Acids
![Page 11: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/11.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
![Page 12: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/12.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
![Page 13: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/13.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Diet therapy
![Page 14: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/14.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Diet therapy
![Page 15: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/15.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Diet therapy
![Page 16: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/16.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Biosynthesis
Diet therapy
![Page 17: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/17.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
CC
Enzyme
Diet therapy
Biosynthesis
![Page 18: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/18.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
CC
Diet therapy
Enzyme
Biosynthesis
![Page 19: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/19.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
Diet therapy
Enzyme
CompetitiveInhibition
Biosynthesis
![Page 20: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/20.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
Diet therapy
Enzyme
CompetitiveInhibition
Biosynthesis
![Page 21: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/21.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
Diet therapy
Enzyme
CompetitiveInhibition
Biosynthesis
![Page 22: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/22.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
C
C Diet therapy
Enzyme
Enzyme
CompetitiveInhibition
Biosynthesis
![Page 23: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/23.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
C
C Diet therapy
Enzyme
Enzyme
CompetitiveInhibition
Biosynthesis
![Page 24: Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Mr. MurphyMrs. Murphy CaniseMariahMichaelaDiedreAugusto LorenzoChristinaFrancesco.](https://reader035.fdocuments.in/reader035/viewer/2022062803/56649f4c5503460f94c6cb4d/html5/thumbnails/24.jpg)
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
C
C Diet therapy
Enzyme
Enzyme
CompetitiveInhibition
CompetitiveInhibition