Genetic DiseaseGenetic Disease

Definition:Definition:

A disorder of a body function, system or A disorder of a body function, system or organ caused by an abnormality in an organ caused by an abnormality in an individual’s genetic material individual’s genetic material

Where does Genetic Material Where does Genetic Material Come From/ReviewCome From/Review

• The genetic material of most living The genetic material of most living organisms, including human being is found organisms, including human being is found almost exclusively in DNA, almost exclusively in DNA, ((Deoxyribonucleic)Deoxyribonucleic)

• DNA comprises approximately 40% of the DNA comprises approximately 40% of the human chromosome while 60% is made up by human chromosome while 60% is made up by protein.protein.

•There are 23 pairs, or 46 chromosomes in There are 23 pairs, or 46 chromosomes in the human cells, with the exception of the the human cells, with the exception of the sperm cell and the ovum which contain only sperm cell and the ovum which contain only 23. Each cell also contains mitochondrial 23. Each cell also contains mitochondrial DNA.DNA.

Human ChromosomesHuman Chromosomes

There are four types of Genetic There are four types of Genetic DiseasesDiseases

1. Single Gene: 1. Single Gene: – DDisorders caused by abnormality or mutation in the isorders caused by abnormality or mutation in the

sequence of one gene sequence of one gene

2. Multifactorial:2. Multifactorial:– caused by a combination of environmental as well as caused by a combination of environmental as well as

mutations in multiple genesmutations in multiple genes

3. Chromosomal:3. Chromosomal:– Abnormalities in chromosome structure such as Abnormalities in chromosome structure such as

missing or extra copies missing or extra copies

4. Mitochondrial:4. Mitochondrial:– caused by a mutation in the non chromosomal DNA of caused by a mutation in the non chromosomal DNA of

the mitochondria. the mitochondria.

Diagnosis/TreatmentDiagnosis/Treatment

DiagnosisDiagnosis• RFLPRFLP• FISHFISH• KaryotypeKaryotype• CVSCVS• Gene SequencingGene Sequencing• Microarray Microarray

(Protein/DNA)(Protein/DNA)• HGP/Model HGP/Model

organismsorganisms

TreatmentsTreatments• Gene/Protein TherapyGene/Protein Therapy• ChemotherapyChemotherapy• TransplantTransplant• Stem cell technologyStem cell technology• Tissue cultureTissue culture• MabMab• Various drugsVarious drugs

Examples of Genetic DisordersExamples of Genetic Disorders

1. SCID: Severe Combine Immunodeficiency1. SCID: Severe Combine Immunodeficiency

2. Type I Diabetes2. Type I Diabetes

3. Cystic Fibrosis3. Cystic Fibrosis

4. Hemophilia4. Hemophilia

5. PKU: Phenylketonuria 5. PKU: Phenylketonuria

6. Galactosemia6. Galactosemia

7. Achondroplasia7. Achondroplasia

8. Alzheimer’s Disease8. Alzheimer’s Disease

SevereSevereCombine Immunodeficiency (SCID, X-SCID)Combine Immunodeficiency (SCID, X-SCID)

http://www.bt.cdc/gov/training/smallpoxvaccine/reactions/prog_vac_viewall.htmlhttp://www.bt.cdc/gov/training/smallpoxvaccine/reactions/prog_vac_viewall.html

Type I DiabetesType I Diabeteshttp://http://www.diabetes.org/home.jspwww.diabetes.org/home.jsp

Definition:Definition:– Type I diabetes is a genetic Type I diabetes is a genetic

disease of the immune disease of the immune system, in which the immune system, in which the immune system attacks and most system attacks and most often destroys the beta cells often destroys the beta cells of the pancreas of the pancreas

Diseased Diseased Pancreatic TissuePancreatic Tissue

Cystic FibrosisCystic Fibrosishttp://http://www.cff.orgwww.cff.org/home/home

DefinitionDefinition An inherited disease An inherited disease

that affects sodium that affects sodium channels in the body channels in the body and causes and causes respiratory and respiratory and digestive problems. digestive problems.

Cystic FibrosisCystic Fibrosis

Affects the mucus Affects the mucus and sweat glandsand sweat glands

Caused by a Caused by a defective genedefective gene

Chronic lung Chronic lung infectionsinfections

Causes Causes malabsorption and malabsorption and malnutritionmalnutrition

Cystic FibrosisCystic Fibrosis

SymptomsSymptoms– Stools, pale or clay Stools, pale or clay

coloredcolored – respiratory infectionsrespiratory infections – Coughing or wheezingCoughing or wheezing– Weight lossWeight loss – Delayed growthDelayed growth

Cystic FibrosisCystic Fibrosis

TreatmentTreatment– Specialty clinicsSpecialty clinics – antibiotics for antibiotics for

respiratory infectionsrespiratory infections – pancreatic enzymespancreatic enzymes – Lung transplant in rare Lung transplant in rare

casescases– ibuprofen may slow ibuprofen may slow

lung deterioration lung deterioration

HemophiliaHemophilia

The oldest known genetic blood disorder: The oldest known genetic blood disorder: There are two types of Hemophilia, Type A and Type B There are two types of Hemophilia, Type A and Type B

H Hemophilia A patients lack the blood clotting emophilia A patients lack the blood clotting

protein factor VIIIprotein factor VIII Hemophilia B patients lack the blood clotting Hemophilia B patients lack the blood clotting

protein, factor IXprotein, factor IX

Phenylketonuria (PKU)Phenylketonuria (PKU)

PKU is a human genetic disease known as PKU is a human genetic disease known as phenylketonuria.phenylketonuria.

Normally humans have one or two of the genes Normally humans have one or two of the genes that encodes for the protein phenylalanine that encodes for the protein phenylalanine hydroxylase thus can metabolize foods containing hydroxylase thus can metabolize foods containing the amino acid phenylalanine.the amino acid phenylalanine.

People with PKU have a gene that encodes for a People with PKU have a gene that encodes for a nonfunctional version of phenylalanine hydroxylase nonfunctional version of phenylalanine hydroxylase

thus cannot metabolize phenylalaninethus cannot metabolize phenylalanine..

Phenylketonuria(PKU)Phenylketonuria(PKU)PhenylketonuriaPhenylketonuria - Genetics Home Reference - Genetics Home Reference

Unable to metabolize phenylalanine

Galactosemia DefinitionGalactosemia Definitionhttp://http://www.galactosemia.comwww.galactosemia.com

Galactosemia is an autosomal Galactosemia is an autosomal recessive disorder, resulting from recessive disorder, resulting from a deficiency in one of several a deficiency in one of several enzymes necessary for the enzymes necessary for the metabolism of galactose. metabolism of galactose. Galactose is formed when lactose, Galactose is formed when lactose, the major sugar of milk and most the major sugar of milk and most soy commercial infant formulas, is soy commercial infant formulas, is digested in the body.digested in the body.

ACHONDROPLASIAACHONDROPLASIA

AchondroplasiaAchondroplasia

Defined as a bone growth disorder characterized by abnormal Defined as a bone growth disorder characterized by abnormal

body proportionsbody proportions

It is inherited in an autosomal dominant fashion It is inherited in an autosomal dominant fashion but the majority of cases (about 80%) are due to but the majority of cases (about 80%) are due to spontaneous mutations of alleles of normal sized spontaneous mutations of alleles of normal sized parents. It is the most common cause of parents. It is the most common cause of dwarfism accounting for about 70% of all cases dwarfism accounting for about 70% of all cases of dwarfismof dwarfism

Mutations of the Mutations of the FGFR3FGFR3 gene on gene on

chromosome chromosome 4 4 causes achondroplasiacauses achondroplasia Average height of an Average height of an adult maleadult male - 4 foot 4 - 4 foot 4 inches (131 cm or 52 inches) inches (131 cm or 52 inches)

Average height of an Average height of an adult femaleadult female - 4 foot 1 - 4 foot 1 inch (124 cm or 49 inches)inch (124 cm or 49 inches)

AlzheimersAlzheimersAlzheimer's Association | HomeAlzheimer's Association | Home

What is Alzheimers?What is Alzheimers?– Alzheimers is a form of dementia that causes Alzheimers is a form of dementia that causes

changes in the brain, and affects a person’s changes in the brain, and affects a person’s memory, mood, and behavior. This disease memory, mood, and behavior. This disease mostly affects people over 65.mostly affects people over 65.

Diagnosis:Diagnosis:– There is no specific test for Alzheimer’s disease, There is no specific test for Alzheimer’s disease,

however, physician are able to look at a person’s however, physician are able to look at a person’s medical history, do a complete physical or give a medical history, do a complete physical or give a memory and/or psycological test to see how well memory and/or psycological test to see how well the brain works. They may also order a brain the brain works. They may also order a brain scan.scan.

BTEC 3301BTEC 3301Fall Semester 2005Fall Semester 2005

Robin RenteriaRobin Renteria Corey RuckertCorey Ruckert Stephanie PatrickStephanie Patrick Blake Dinsmore Blake Dinsmore Aminatu Issaka Aminatu Issaka Mahdi Mahdi Ada Ada IbiIbi