6 non infectiousdiseases&geneticengineering

6. Non-infectious 6. Non-infectious Diseases and Genetic Diseases and Genetic EngineeringEngineeringDiabetes Type 1 and Stem Diabetes Type 1 and Stem CellsCells

What Do You Know About What Do You Know About It?It?

Do you know which are the causes of diabetes Do you know which are the causes of diabetes type 1? (Maria)type 1? (Maria)

And of diabetes type 2? (Lola)And of diabetes type 2? (Lola) Do you think that grandmother would be right Do you think that grandmother would be right

to believe she is responsible for Maria’s to believe she is responsible for Maria’s diabetes?diabetes?

What is endocrinology department concerned What is endocrinology department concerned in?in?

What do you know about insulin? What is it? What do you know about insulin? What is it? Where is it produced? Which is its function?Where is it produced? Which is its function?

Do diabetes type 1 and 2 have a definitive Do diabetes type 1 and 2 have a definitive cure?cure?

What is Diabetes Type What is Diabetes Type 1?1?

TheThe pancreas pancreas has features of both has features of both exocrine exocrine (pancreatic juice) and (pancreatic juice) and endocrineendocrine glands (hormones that glands (hormones that regulate blood glucose level)regulate blood glucose level)

One of these hormones is One of these hormones is insulininsulin, , secreted by secreted by β cells in islets of β cells in islets of LangerhansLangerhans

Insulin is secreted responding to a Insulin is secreted responding to a high blood glucose levelhigh blood glucose level

Insulin Insulin passes into bloodstream passes into bloodstream and and provokes the entering of provokes the entering of glucoseglucose to to tissuestissues of muscles and liver to be of muscles and liver to be put put in storage as an energetic reservein storage as an energetic reserve and keeps the normal level of blood and keeps the normal level of blood glucose between 60 and 120 mg·dLglucose between 60 and 120 mg·dL-1-1

If If β β cells do not produce insulin,cells do not produce insulin, or or produce an insufficient amount, blood produce an insufficient amount, blood might have an might have an excess of glucoseexcess of glucose that that would not enter the tissueswould not enter the tissues

It is detected with a It is detected with a blood blood oror urine urine analysisanalysis

The Glucose CurveThe Glucose Curve

1-B1-B: : Maria’s motherMaria’s mother, normal blood , normal blood glucose level and insulinglucose level and insulin2-A2-A: : Grandma LolaGrandma Lola, high BGL, , high BGL, very little insulinvery little insulin3-C3-C: : MariaMaria, high BGL, no insulin, high BGL, no insulin

Data of blood glucose Data of blood glucose concentration before and after an concentration before and after an ingest cannot be compared. After ingest cannot be compared. After an ingest, insulin makes glucose an ingest, insulin makes glucose enter the cells and return to basal enter the cells and return to basal values. It makes no sense to take values. It makes no sense to take more pillsmore pills

Non-infectious Non-infectious DiseasesDiseases Most of non-infectious diseases are Most of non-infectious diseases are

geneticgenetic, in the sense that genes , in the sense that genes determine biological activity in our determine biological activity in our cells and organ functioningcells and organ functioning

So that a disease can be shown, tens So that a disease can be shown, tens of altered genes may have been of altered genes may have been implied: it is about a implied: it is about a multigenic multigenic diseasedisease

Genes operate under regulation Genes operate under regulation depending on depending on external factors external factors like like feeding or habits (tobacco, alcohol, feeding or habits (tobacco, alcohol, sedentary lifestyle)sedentary lifestyle)

GENE EXPRESSION IN PROTEINS AND THEIR BIOLOGICAL FUNCTION

Causes of Diabetes Causes of Diabetes Type 1 and Type 2?Type 1 and Type 2?

Childhood chronic diseaseChildhood chronic disease PredispositionPredisposition to suffer it is inherited, but to suffer it is inherited, but

the most frequent type has an the most frequent type has an autoimmune originautoimmune origin (like rheumatoid (like rheumatoid arthritis, lupus or multiple sclerosis): arthritis, lupus or multiple sclerosis): due due to some genes malfunction, to some genes malfunction, immune immune system does not recognize system does not recognize β cells from β cells from islets of Langerhans islets of Langerhans as of its own as of its own and and destroys them, as if they were infectious destroys them, as if they were infectious microorganisms microorganisms

Lola’s diabetes is type 2, adult’s Lola’s diabetes is type 2, adult’s diabetes. Glycaemia (BGL) increases diabetes. Glycaemia (BGL) increases out of control because cells do not out of control because cells do not recognize insulin, although pancreas recognize insulin, although pancreas does synthesize it: does synthesize it: resistance to resistance to insulininsulin

A diet poor in carbohydratesA diet poor in carbohydrates must must be gone on, but in the most serious be gone on, but in the most serious cases some cases some medication must be medication must be taken taken or or insulin must be injected insulin must be injected to to control glycaemiacontrol glycaemia

A Treatment for A Treatment for Diabetes Type 1Diabetes Type 1 We must supply the dailyWe must supply the daily required required

insulin dose insulin dose With the help of a With the help of a glucometerglucometer we can we can

daily measure the blood glucose level daily measure the blood glucose level from a drop of bloodfrom a drop of blood

With the help of a With the help of a syringesyringe we must we must inject the required insulin doseinject the required insulin dose

An An insulin infusion pumpinsulin infusion pump injects you injects you the required dose, but you must be the required dose, but you must be connected there all the timeconnected there all the time

A Genetic RevolutionA Genetic Revolution

Until recently Until recently pig’s insulinpig’s insulin was was used, but it provoked used, but it provoked undesirable undesirable immune reactionsimmune reactions, due to some , due to some little differences with human insulinlittle differences with human insulin

Now biotechnology techniques or Now biotechnology techniques or geneticgenetic engineering engineering are used: are used: recombinant DNA technology recombinant DNA technology (rDNA)(rDNA), techniques that are also , techniques that are also applied to prenatal diagnose and applied to prenatal diagnose and police inquirypolice inquiry

1953 : Watson and Crick show the 1953 : Watson and Crick show the DNA molecular structureDNA molecular structure and open and open the research in molecular geneticsthe research in molecular genetics

1983 : Kary B. Mullis applies the 1983 : Kary B. Mullis applies the technique of the technique of the polymerase chain polymerase chain reaction reaction (PCR), what makes (PCR), what makes possible to repeat hundredths of possible to repeat hundredths of times a specific sequence of DNAtimes a specific sequence of DNA

2004 : first publications of 2004 : first publications of human human genome genome that includes 3000 million that includes 3000 million of nucleotide pairs with four types of nucleotide pairs with four types of bases: A (adenine), T (thymine), of bases: A (adenine), T (thymine), G (guanine), C (cytosine)G (guanine), C (cytosine)

Recombinant InsulinRecombinant Insulin

Human insulinHuman insulin synthesized by means of synthesized by means of genetic engineering techniquesgenetic engineering techniques

Insulin Insulin is produced by genetically is produced by genetically modifiedmodified bacteria bacteria (Escherichia coli)(Escherichia coli)

The gene of human insulinThe gene of human insulin is extracted is extracted from human cells, from human cells, it is clonedit is cloned (it is (it is enlarged and copied) and introduced enlarged and copied) and introduced into the bacteria genome, which is a into the bacteria genome, which is a usual microorganism in our intestineusual microorganism in our intestine

All that has become possible thanks to All that has become possible thanks to restriction enzymesrestriction enzymes, molecules that cut , molecules that cut and stick fragments of DNA in a and stick fragments of DNA in a selective wayselective way

Genetically modified bacteriaGenetically modified bacteria E. E. ColiColi produce an insulin identical to produce an insulin identical to the one produced by humans, but the one produced by humans, but they they are GMOare GMO (genetically modified (genetically modified organisms) organisms) oror transgenic transgenic organismsorganisms

Once the transgenic organisms are Once the transgenic organisms are obtained, one goes to an obtained, one goes to an industrial industrial production scaleproduction scale: : cultures of cultures of millions of modified bacteriamillions of modified bacteria cells cells are obtained to produce insulin. are obtained to produce insulin. Finally you only need to purify, Finally you only need to purify, isolate and collect the product: isolate and collect the product: insulin fit for treating diabetic insulin fit for treating diabetic patientspatients

Biotechnological Industry Biotechnological Industry and Patentsand Patents NASDAQ Biotechnology IndexNASDAQ Biotechnology Index: it is about : it is about

an exclusive index to North-American an exclusive index to North-American biotechnological industriesbiotechnological industries

Today Today a lot of medicaments are a lot of medicaments are obtained obtained with genetic engineering techniqueswith genetic engineering techniques

Success is mainly founded in Success is mainly founded in patentspatents: : moleculesmolecules discovered by recombinant discovered by recombinant techniques can be patented, and alsotechniques can be patented, and also new devicesnew devices for medicine’s for medicine’s administration and diagnose equipmentadministration and diagnose equipment

Patents mean Patents mean moneymoney: every time : every time you buy a medicine or a diagnose you buy a medicine or a diagnose equipment, equipment, a percentage of the a percentage of the price is set aside to pay the patentprice is set aside to pay the patent. . So, the firm that has made the So, the firm that has made the research recovers the investment research recovers the investment made, at least in partmade, at least in part

Future of biomedical research Future of biomedical research does does not only not only dependdepend on the economic on the economic power that these firms have, but power that these firms have, but also on the resources that public also on the resources that public administrations set asideadministrations set aside

TRANSGENIC ORGANISMS

The Future: The Future: Stem Cells for Maria?Stem Cells for Maria? Grandma Lola’s treatment Grandma Lola’s treatment

consists of a consists of a strict diet strict diet (no sweets (no sweets at all) and some at all) and some physical exercisephysical exercise (walking). For the time being she (walking). For the time being she needs not to inject herself with needs not to inject herself with insulin, her glycaemia can be insulin, her glycaemia can be under control only with under control only with pillspills

The little girl has recovered her The little girl has recovered her child’s vitality, but she needs child’s vitality, but she needs synthetic synthetic insulininsulin

Psychological Psychological Disorders in Child Disorders in Child PatientsPatients Children suffering a chronic disease may Children suffering a chronic disease may

undergo some undergo some behavior disorders behavior disorders The little girl must learn that she must The little girl must learn that she must

have her fingers have her fingers prickedpricked and her thighs, and her thighs, belly or arms belly or arms injectedinjected

Maybe she felt Maybe she felt guiltyguilty and and punishedpunished, , hostile hostile with her parents and grandma, with her parents and grandma, but she has already overcome itbut she has already overcome it

Her parentsHer parents have spoken clearly to her have spoken clearly to her and and have not overprotected herhave not overprotected her. Sharing . Sharing her illness with grandma maybe has her illness with grandma maybe has helpedhelped

Stem CellsStem Cells

Is it possible to find a Is it possible to find a future future solution solution for Maria?for Maria?

The doctor tells her parents that The doctor tells her parents that nownow there is a research as a there is a research as a therapeutic optiontherapeutic option, but it cannot , but it cannot be applied yetbe applied yet

Embryonic stem cellsEmbryonic stem cells are are pluripotentpluripotent, say, they can be , say, they can be transformed in whatever the 200 transformed in whatever the 200 types of cells in our organismtypes of cells in our organism

Chemical signalsChemical signals, substances, , substances, induct them to change gene induct them to change gene expressionexpression, so they produce some , so they produce some proteins or others and become proteins or others and become cardiac, epithelial, retina or cardiac, epithelial, retina or β β pancreatic pancreatic cellscells

If we could only If we could only obtain in lab obtain in lab embryonic stem cellsembryonic stem cells without any without any problems of immunologic rejection:problems of immunologic rejection:

We could We could transplant pancreatic transplant pancreatic ββcells cells to a patient with diabetesto a patient with diabetes

We could We could renew the harmed renew the harmed cardiac muscle cardiac muscle of a patient waiting of a patient waiting for a heart transplantationfor a heart transplantation

We could We could repair the spinal cord repair the spinal cord of a of a patient with a spinal cord injury patient with a spinal cord injury because of a road accidentbecause of a road accident

Now Now they are only possibilities for they are only possibilities for the futurethe future, but they are not science , but they are not science fiction, because a lot of efforts and fiction, because a lot of efforts and research are devoted, but not research are devoted, but not exempt of exempt of controversycontroversy::

There are There are bioethical reasons bioethical reasons : : the use of stem cells implies the the use of stem cells implies the use of human embryos, although use of human embryos, although other alternative sources for other alternative sources for these cells are into researchthese cells are into research

Embryonic stem cells are Embryonic stem cells are obtained from a obtained from a blastocyst blastocyst ::

Blastocyst is a Blastocyst is a very initialvery initial stage stage in in embryonic development (4 or 5 embryonic development (4 or 5 days of pregnancy)days of pregnancy)

These cells would These cells would develop an develop an embryo until reaching the fetal embryo until reaching the fetal stagestage, that is why its use in , that is why its use in research is controversialresearch is controversial

One alternative are One alternative are adult stem adult stem cellscells. These ones are spread . These ones are spread through different tissues in our through different tissues in our organism and they are occupied organism and they are occupied in regenerating in a natural way in regenerating in a natural way damaged tissuesdamaged tissues

Many public groupsMany public groups, universities , universities and firms in biomedical research and firms in biomedical research compete for obtaining promising compete for obtaining promising results results

The new The new Law for biomedical Law for biomedical researchresearch, from July 2007, offers , from July 2007, offers a new frame to regulate that a new frame to regulate that researchresearch

There are There are a lot of interests at a lot of interests at playplay(patents, money, prestige) (patents, money, prestige) but there is also the risk to make but there is also the risk to make frauds and present fake datafrauds and present fake data

To Learn MoreTo Learn More Web dedicat a la diabetis:Web dedicat a la diabetis:www.diabetesjuvenil.com/ Web nord-americana de Web nord-americana de

l’enciclopèdia mèdica Medline:l’enciclopèdia mèdica Medline:www.nlm.nih.gov/medlineplus/diabetestype1.html Pàgina web sobre patents:Pàgina web sobre patents:www.invenia.es/invenia:universidades:patentes

BUENO, David. BUENO, David. Òrgans a la carta. Òrgans a la carta. Barcelona: Universitat de Barcelona, Barcelona: Universitat de Barcelona, 20072007

Roslin Institute, la institució que va Roslin Institute, la institució que va aconseguir el clon animal més aconseguir el clon animal més conegut: l’ovella Dolly:conegut: l’ovella Dolly:

www.roslin.ac.uk National Institutes of Health (USA):National Institutes of Health (USA):Stemcells.nih.gov/info/basics/basics4.asp Llei d’investigació biomèdica, juliol de Llei d’investigació biomèdica, juliol de

2007:2007:www.boe.es/g/es/bases_datos/doc.php?coleccion=iberlex&id=2007/12945