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Beginning of the chapter What are genes and what information do we get from genetic analyses? 13.

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Presentation on theme: "Beginning of the chapter What are genes and what information do we get from genetic analyses? 13."— Presentation transcript:

1 Beginning of the chapter What are genes and what information do we get from genetic analyses? 13

2 GENETICS What are genes?

3 The human body Cells (50 bn) Chromosome DNA double helix Pigment gene GENETICS What are genes? Blue eyes

4 GENETICS What are genes? Strong bones Digestion of lactose Inhibits blood clot formation Errors or MUTATIONS change the genetic code Each person carries approximately 2 000 genetic defects Thrombosis Lactose intolerance Osteoporosis Coagulation gene (Factor V) Enzyme gene (Lactase) Bone formation gene (Col1A1) TTGCTAGACTGTGCTAGACTTTGCTAAACTTTGCTAGACTTTGCTAGACTATGCTAGACT AACGATCTGACACGATCTGAAACGATTTGAAACGATCTGAAACGATCTGATACGATCTGA TTGCTAGACTGTGCTAGACTTTGCTAAACTTTGCTAGACTTTGCTAGACTATGCTAGACT AACGATCTGACACGATCTGAAACGATTTGAAACGATCTGAAACGATCTGATACGATCTGA

5 GENETICS What causes mutations? ATTAGGGTGGTACCGTTGCCGGGGGCTTAATATCGCTTATGAAACCATCGGTCTCGGGAATTCTCGGATATTAGGTTCTTCGGCGCGCTTCGGATAATATCATCTTCGGGAAAATATTGTTTT RadioactivityUV-radiationCopying errorSoot/smoke Approx. 3 per generation

6 GENETICS The consequences of mutations ATTCGCGGCTTATTAGGCCGGGGCTTAATATCGCTTATGAAACCATCGGTCTCGGGAATTCTCGGATATTAGGTTCTTCGGCGCGCTTCGGATAATATCTCGATCTTCGGGAAAATATTGTTTT Coagulation gene (Factor V) Lactose enzyme gene (Lactase) Fat intake gene (FABP2) Iron uptake gene (HFE) Renal tissue gene (COL4A5) Prevents blood clot formation in the blood vessels Splits lactose in the intestine Builds strong kidney tissue Regulates the fat intake from food Regulates iron intake from food

7 GENETICS ATTCGGTTGTTGCGGCTTATTAGGCCGGGGCTTAATATCGCTTATGAAACCATCGG Renal tissue gene (COL4A5) Builds strong kidney tissue G The consequences of mutations

8 GENETICS ATTCGGTTGTTGCGGCTTATTAGGCCGGGGCTTAATATCGCTTATGAAACCATCGG Renal tissue gene (COL4A5) Builds strong kidney tissue G Renal failure ??? Genetic analysis (€1500) Diagnosis (ALPORT SYNDROME) 1 in 50.000 The consequences of mutations

9 GENETICS Common diseases Rare diseases Drugs Body weight Diet Talent for competitive sports The consequences of mutations

10 GENETICS What are polymorphisms? ATTAGGGTGGTACCGTTGCCGGGGGCTTAATATCGCTTATGAAACCATCGGTCTCGGGAATTCTCGGATATTAGGTTCTTCGGCGCGCTTCGGATAATATCATCTTCGGGAAAATATTGTTTT A difference in 1 in 1 000 bases ATTAGGGTGGTACCATTGCCGGGGGCTTAATATCGCTTATGAAACGATCGGTCTCGGGAATTCTCGGATATTTGGTTCTTCGGCGCGATTCGGATAATATCATCTTCGGGAAAATATTGGTTT A difference in 1 in 1 00 bases

11 GENETICS ATTAGGGTGGTACCGTTGCCGGGGGCTTAATATCGCTTATGAAACCATCGGTCTCGGGAATTCTCGGATATTAGGTTCTTCGGCGCGCTTCGGATAATATCATCTTCGGGAAAATATTGTTTT ATTAGGGTGGTACCATTGCCGGGGGCTTAATATCGCTTATGAAACGATCGGTCTCGGGAATTCTCGGATATTTGGTTCTTCGGCGCGATTCGGATAATATCATCTTCGGGAAAATATTGGTTT Single Nucleotide Polymorphisms (SNPs / „SNIPS“) very common approx. 10 Mil. known polymorphisms the majority have no impact approx. 2 000 per person, negative for health A common example What are polymorphisms?

12 GENETICS Lactose (in)tolerance GAL GLU LACTOSE Lactase gene GLU GAL

13 GENETICS GAL GLU LACTOSE Lactase gene GLU GAL LACTOSE Age++ Lactose (in)tolerance

14 GENETICS Moderate symptoms Severe symptoms Mild symptoms Lactase enzyme Age (years) 10 20 30 40 50 60 70 1 of 6 people: the lactase enzyme is gradually switched off Lactose intolerance Lactose (in)tolerance

15 GENETICS GAL GLU LACTOSE Lactase gene GLU GAL LACTOSE Age++ SNP Lactose (in)tolerance

16 GENETICS Moderate symptoms Severe symptoms Mild symptoms Lactase enzyme Age (years) 10 20 30 40 50 60 70 5 of 6 people: the lactase enzyme is constantly produced 1 of 6 people: the lactase enzyme is gradually switched off Lactose intolerance Lactose (in)tolerance

17 GENETICS Lactose (in)tolerance

18 GENETICS Lactose (in)tolerance

19 GENETICS Lactose (in)tolerance

20 GENETICS Iron overload disorder and prevention Iron in the blood Age (years) 10 20 30 40 50 60 70 susceptibility to infections Joint pains Diabetes Cirrhosis of the liver Cirrhosis, diabetes etc. Genetic test Up to 76% incorrect diagnosis !! Blood letting therapy Typical progression

21 GENETICS Iron in the blood Age (years) 10 20 30 40 50 60 70 susceptibility to infections Joint pains Diabetes Cirrhosis of the liver Genetic test Phlebotomy therapy Genetic test Healthy 4-6 x annual blood donations Typical progression Iron overload disorder and prevention

22 GENETICS Common diseases Rare diseases Drugs Body weight Diet Talent for competitive sports The consequences of mutations

23 GENETICS Pharmacogenetics - medication and side effects Drugs have the desired effect only for 60% of the population >>>Side effects (deadly) >>>No effect One out of 12 hospital patients suffer from severe side effects One out of 250 hospital patients die due to side effects The fifth most frequent cause of death in the Western world Certain genes control the breakdown of drugs CYP 2D6, CYP 2C9, CYP 2C19

24 GENETICS The drug is taken The drug is broken down by the enzyme The drug ends up in the urine Enzyme gene The drug exhibits its effect Pharmacogenetics

25 GENETICS EFFECTIVE DOSE OF DRUG Drug in the blood Time (days) 1d 2d 3d 4d Intake A drug is absorbed into the blood and then filtered out. It is taken daily to maintain a constant level Pharmacogenetics

26 GENETICS The drug is taken The drug is not broken down Enzyme gene The drug exhibits its effect The drug is not filtered out of the body Warfarin example Pharmacogenetics

27 GENETICS EFFECTIVE DOSE OF DRUG Drug in the blood Time (days) 1d 2d 3d 4d Intake Side effects Pharmacogenetics

28 GENETICS Common diseases Rare diseases Drugs Body weight Diet Talent for competitive sports The consequences of mutations

29 GENETICS Fat absorption gene FAT The genetics of overweight

30 Fat absorption gene GENETICS FAT The genetics of overweight FAT

31 GENETICS LOW FAT LOW CARB BALANCED, LOW FAT BALANCED, LOW CARB BALANCED ? THE MOST EFFECTIVE The genetics of obesity

32 GENETICS Common diseases Rare diseases Drugs Body weight Diet Talent for competitive sports The consequences of mutations

33 GENETICS Nutrigenetics Lactose intolerant Gluten intolerant Iron overload disorder Dairy productsWheatRed meat Different dietary recommendations for every person!

34 GENETICS Common diseases Rare diseases Drugs Body weight Diet Talent for competitive sports The consequences of mutations

35 GENETICS Genes and competitive sports 14% Control group POWER genes 3% Athletes (World Cup/Olympics) 5x worse chances to reach elite level END POW END POW

36 GENETICS Common diseases Rare diseases Drugs Body weight Diet Talent for competitive sports The various categories of analysis LIFESTYLE ANALYSES MEDICAL ANALYSES SPECIAL CASES

37 End of the chapter What are genes and what can we find out through genetic analyses? 13

38 Beginning of the chapter Epigenetics and genetics 18

39 GENETICS Epi-Genetics

40 EPIGENETICS What is epigenetics? Genetics - blueprint of the body Instruction: How is food digested? Instruction: How are blood sugar levels regulated? Instruction: What color should eyes have? Instruction: How are strong bones built? Gene defective >> missing function of the body >> disease Epigenetics - "volume control" for the genes Environmental factors turn genes on (make them LOUDER) Environmental factors turn genes off (they make QUIETER) „Louder“ und „Quieter“ genes influence processes in the body Epigenetic programming can be inherited

41 EPIGENETICS What is epigenetics? 1944 Netherlands Famine 400kcal/Day 1947 Netherlands 1997 Netherlands Heart disease Breast cancer Obesity 2013 Netherlands Heart disease Breast cancer Obesity Environmental impact on the mother in 1944 influences the health of the descendants two generations later

42 GENETICS How does epigenetics work? GTCTTACTTAGCCCTTTAAAGATCGAATCCGCGGCAGAATACATCGAAGGATTCGCTATATTAGG Lactose digestion Heterochromatin

43 GENETICS How does epigenetics work? Famine 400kcal/Tag Function A Function B Function C Function D Function E Function F

44 GENETICS How does epigenetics work?

45 GENETICS How does epigenetics work? GTCTTACTTAGCCCTTTAAAGATCGAATCCGCGGCAGAATACATCGAAGGATTCGCTATATTAGG Lactose digestion If epigenetics can turn on or off different genes, doesn‘t this overrule the genetic defects? Answer: Some genetic defects destroy the instructions for the body. These instructions are completely lost, and cannot be recovered by epigenetics. >> Gene mutations cause severe diseases

46 End of the chapter Epigenetics and genetics 18

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