Adrenoleukodystrophy – an X-linked, sex-linked,

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Presentation transcript:

Adrenoleukodystrophy – an X-linked, sex-linked, recessive, genetic disorder Unaffected male Affected male Unaffected female Affected female Mr. Murphy Mrs. Murphy XAY XAXa Canise Mariah Michaela Augusto Diedre XAXa XAY XAXA XAY XAXa XAY XAX? XAXa Lorenzo Christina Francesco XAX? XAX? XAY XaY XAX? XAY

Augusto Adone’s Kitchen Sink Analogy for Long-Chain Saturated Fats Tap = Diet as source of long-chain saturated fatty acids Sink = Lorenzo’s body Drain = enzyme which digests excess long-chain saturated fatty acids

Augusto Adone’s Kitchen Sink Analogy for Long-Chain Saturated Fats Tap = Diet as source of long-chain saturated fatty acids Sink = Lorenzo’s body Plugged drain = missing enzyme in boys with ALD Drain = enzyme which digests excess long-chain saturated fatty acids

Augusto Adone’s Kitchen Sink Analogy for Long-Chain Saturated Fats Tap = Diet as source of long-chain saturated fatty acids Rising water level in sink = Rising level of long-chain saturated fats in blood from diet, which destroy myelin Sink = Lorenzo’s body Plugged drain = missing enzyme in boys with ALD Drain = enzyme which digests excess long-chain saturated fatty acids

Augusto Adone’s Kitchen Sink Analogy for Long-Chain Saturated Fats Tap = Diet as source of long-chain saturated fatty acids Tap turned off = therapy by diet, remove long-chain saturated fats from diet Rising water level in sink = Rising level of long-chain saturated fats in blood from diet, which destroy myelin Sink = Lorenzo’s body Plugged drain = missing enzyme in boys with ALD Drain = enzyme which digests excess long-chain saturated fatty acids

Augusto Adone’s Kitchen Sink Analogy for Long-Chain Saturated Fats Tap turned on = increased biosynthesis maintaining high levels of long-chain saturated fats in blood Tap = Diet as source of long-chain saturated fatty acids Tap turned off = therapy by diet, remove long-chain saturated fats from diet Rising water level in sink = Rising level of long-chain saturated fats in blood from diet, which dissolve myelin Sink = Lorenzo’s body Plugged drain = missing enzyme in boys with ALD Drain = enzyme which digests excess long-chain saturated fatty acids

Long-Chain Saturated Fatty Acids 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 II H—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 II H—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 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 II H—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

cis-9-Octadecenoic acid, or oleic acid Long-Chain Monounsaturated Fatty Acids —C—C—C—C—C—C—C—C—O H H H H H H H O I I I I I I I II H H H H H H H H I I I I I I I 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 — C — C H H Monounsaturated C18H34O2 cis-9-Octadecenoic acid, or oleic acid

cis-13-Docosenoic acid, or erucic acid Long-Chain Monounsaturated Fatty Acids 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 H —C—C—C—C—C—C—C—C—C—C—C—C—O H H H H H H H H H H H O I I I I I I I I I I I II H H H H H H H H H H H H I I I I I I I I I I I C — Monounsaturated C22 C42O2 cis-13-Docosenoic acid, or erucic acid

cis-15-Tetracosenoic acid, or nervonic acid Long-Chain Monounsaturated Fatty Acids —C—C—C—C—C—C—C—C—C—C—C—C—C—C—O 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 H H H H H H H H H H H H H H I I I I I I I I I I I I I 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 — C — C H H Monounsaturated C24 C46O2 cis-15-Tetracosenoic acid, or nervonic acid

Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid Diet therapy CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid Diet therapy CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid Diet therapy CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid Diet therapy Biosynthesis CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid C CH3(CH2)7CH CH(CH2)11COOH — Enzyme CH3(CH2)20COOH erucic acid behenic acid Diet therapy Biosynthesis CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid C CH3(CH2)7CH CH(CH2)11COOH — Enzyme CH3(CH2)20COOH erucic acid behenic acid Diet therapy Biosynthesis CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid C Competitive Inhibition Enzyme CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid Diet therapy Biosynthesis CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid C Competitive Inhibition Enzyme CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid Diet therapy Biosynthesis CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid C Competitive Inhibition Enzyme CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid Diet therapy Biosynthesis CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid C Competitive Inhibition Enzyme CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid C Diet therapy Biosynthesis CH3(CH2)7CH CH(CH2)13COOH — Enzyme CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid C Competitive Inhibition Enzyme CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid C Diet therapy Biosynthesis CH3(CH2)7CH CH(CH2)13COOH — Enzyme CH3(CH2)22COOH nervonic acid lignoceric acid

Competitive Inhibition Competitive Inhibition Competitive Inhibition – inhibiting biosynthesis of long-chain saturated fatty acids by increasing biosynthesis of long-chain monounsaturated fatty acids CH3(CH2)7CH CH(CH2)7COOH — CH3(CH2)16COOH oleic acid stearic acid C Competitive Inhibition Enzyme CH3(CH2)7CH CH(CH2)11COOH — CH3(CH2)20COOH erucic acid behenic acid C Diet therapy Competitive Inhibition Enzyme CH3(CH2)7CH CH(CH2)13COOH — CH3(CH2)22COOH nervonic acid lignoceric acid