Genetic Diseases. SCPA202: Basic Pathology
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1 Genetic Diseases SCPA202: Basic Pathology Amornrat N. Jensen, Ph.D. Department of Pathobiology School of Science, Mahidol University
2 Genetic disease An illness caused by abnormalities in genes or chromosomes Genetic abnormalities maybe inherited, acquired during embryogenesis, or acquired later in life
3 Genes Double-stranded molecules of DNA Four types of nucleotide base - Adenine, Thymine, Cytosine, and Guanine Cells store the hereditary information in DNA
4 DNA is packaged in a chromosome Chromosome Human Cells Chromosomes (in nucleus) Chromosome Modified from A gene on a chromosome
5 Human has 46 chromosomes (23 pairs) Sex chromosomes One chromosome of each pair is inherited from mother and one from father Chromosomes other than the sex chromosomes called autosomes
6 Products of genes are specific proteins Proteins are essential molecules for living organisms
7 DNA codons are the code for each amino acid DNA Protein (protein)
8 The genetic code for amino acids is a triplet code Image from bio.georgiasouthern.edu
9 Genetic mutations Permanent changes in the DNA Example of genetic mutation CAC CAG Histidine Normal protein Glutamine Faulty protein
10 Example: Mutation in β o -thalassemia Kumar et al., Basic Pathology, 7th edition, 2003
11 Types of genetic disorders 1) Single gene / Mendelian disorders 2) Chromosomal disorders 3) Multifactorial / Complex disorders 4) Mitochondrial disorders 5) Epigenetic disorders
12 Single gene / Mendelian disorders Resulted from mutations in single genes Often have simple and predictable inheritance There are over 5,000 known mendelian disorders!
13 Transmission patterns of single gene disorders 1) Autosomal dominant 2) Autosomal recessive 3) Sex chromosome-linked
14 Dominant gene VS recessive gene Genes are always found in pairs that control the making of the same protein In some cases, one gene of the pair will control the feature - Gene that controls the feature: Dominant gene - The other gene in the pair: Recessive gene
15 Transmission pattern of autosomal dominant disorders
16 Examples of autosomal dominant disorders Autosomal Dominant Disorders System Disorder Nervous Huntington disease Neurofibromatosis Myotonic dystrophy Tuberous sclerosis Urinary Polycystic kidney disease Gastrointestinal Familial polyposis coli Hematopoietic Hereditary spherocytosis von Willebrand disease Skeletal Marfan syndrome [*] Ehlers-Danlos syndrome (some variants) [*] Osteogenesis imperfecta Achondroplasia Metabolic Familial hypercholesterolemia [*] Acute intermittent porphyria Kumar et al., Basic Pathology, 7th edition, 2003
17 Huntington s disease Neurodegenerative disorder that cells in the part of the brain that controls movement, emotion, and thinking ability is destroyed Caused by a mutation in the gene encoding for huntingtin Huntingtin has been shown to be essential for development, however its function is yet unclear dissertationen/zabelclaus /html/ N100BA.html
18 Familial hypercholesterolemia The most common mendelian disorders (prevalence: 1 in 500) Caused by a mutation in gene encoded for LDL receptor LDL receptor functions in removing LDL from the blood circulation Patient with familial hypercholesterolemia has abnormally high level of LDL in the blood Kumar et al., Basic Pathology, 8th edition, 2007
19 Transmission patterns of single gene disorders 1) Autosomal dominant 2) Autosomal recessive 3) Sex chromosome-linked
20 Autosomal recessive disorders The largest group of mendelian disorders The diseases occur only when both alleles of the genes are mutants Disease onset is usually early in life X X
21 Transmission pattern of autosomal recessive disorders
22 Examples of autosomal recessive disorders Autosomal Recessive Disorders System Metabolic Hematopoietic Endocrine Skeletal Nervous Disorder Cystic fibrosis Phenylketonuria Galactosemia Homocystinuria Lysosomal storage diseases 1-Antitrypsin deficiency Wilson disease Hemochromatosis Glycogen storage diseases Sickle cell anemia Thalassemias Congenital adrenal hyperplasia Ehlers-Danlos syndrome (some variants) Alkaptonuria Neurogenic muscular atrophies Kumar et al., Basic Pathology, 8th edition, 2007
23 Cystic fibrosis Disease that affects the respiratory and digestive systems Mutation of gene encoding chloride channel essential for production of sweat, mucus, and digestive components Patients have salty tasting skin, poor growth, excess mucus production, frequent chest infections and shortness of breath
24 Sickle cell anemia A disorder that affects red blood cells Caused by a mutation in a gene encoding for beta subunit of hemoglobin Hemoglobin molecules do not form properly, causing red blood cells to be rigid and have a concave shape
25 Transmission patterns of single gene disorders 1) Autosomal dominant 2) Autosomal recessive 3) Sex chromosome-linked
26 X-linked disorders There are relatively small number of x-linked diseases Almost all x-linked disorders are recessive Female carrying one mutant x allele usually does not carry a disease due to the presence of another normal allele Affected male does not pass x-linked trait to his son
27 Transmission pattern of X-linked disorders
28 Examples of X-linked disorders X-Linked Recessive Disorders System Disease Musculoskeletal Duchenne muscular dystrophy Blood Immune Metabolic Nervous Hemophilia A and B Chronic granulomatous disease Glucose-6-phosphate dehydrogenase deficiency Agammaglobulinemia Wiskott-Aldrich syndrome Diabetes insipidus Lesch-Nyhan syndrome Fragile-X syndrome Kumar et al., Basic Pathology, 8th edition, 2007
29 Hemophilia Disorder that affects ability to control blood clotting Caused by mutations in genes encoding for clotting factors that help platelets stick together at the site of injury Patients with hemophilia have a prolonged bleeding following the injury
30 Red-green color blindness The most common form of color blindness Found in approximately 7% of male population in the US and only 0.4% of female population (Montgomery, Howard Huge Medical Institute) Caused by mutations in two genes that encode for red and green pigments
31 Types of genetic disorders 1) Single gene / Mendelian disorders 2) Chromosomal disorders 3) Multifactorial / Complex disorders 4) Mitochondrial disorders 5) Epigenetic disorders
32 Chromosomal Disorders Approximately 1 of 200 newborns has some form of chromosomal abnormalities Chromosomal disorders/ Cytogenetic disorders are caused by: 1. Alterations in chromosome number or 2. Alterations in chromosome structure
33 Alterations in chromosome number Nondisjunction occurs when homologues fail to separate during meiosis Trisomy cell has one extra chromosome Monosomy cell has one missing chromosome
34 Down syndrome/ Trisomy 21 Result of an extra copy of chromosome Affects 1 in 800 children - the most common chromosomal disorder! Patients have characteristic facial features, short stature, heart defects, and short lifespan
35 Turner syndrome/ Monosomy X The only viable monosomy in humans!! Found in 1 of every 2,000 to 2,500 newborns Patients have short stature, do not mature sexually during puberty, and sterile
36 Chromosomal abnormality 1. Alterations in chromosome number 2. Alterations in chromosome structure Translocation Deletion Duplication
37 Diseases caused by chromosomal translocations
38 Disease caused by chromosomal deletion: Cri-du-Chat Syndrome Partial deletion of a small arm of chromosome 5 Severe mental retardation People who have Cri-du-chat syndrome usually cry like a cat due to abnormal larynx development, have a small head, and unusual facial features
39 Types of genetic disorders 1) Single gene / Mendelian disorders 2) Chromosomal disorders 3) Multifactorial / Complex disorders 4) Mitochondrial disorders 5) Epigenetic disorders
40 Multifactorial or complex disorders Mutations in a number of genes, often coupled with an environmental influence (drug use, alcohol, pollutants etc.) Often cluster in families BUT do not have a clear-cut pattern of inheritance Low tendency to be inherited compared to single gene disorders
41 Example of complex multigenic disorders Asthma Diabetes Epilepsy Hypertension Coronary artery disease
42 Types of genetic disorders 1) Single gene / Mendelian disorders 2) Chromosomal disorders 3) Multifactorial / Complex disorders 4) Mitochondrial disorders 5) Epigenetic disorders
43 Mitochondrial disorders Mitochondria contain several copies of their own genetic material (mitochondrial DNA) Only egg contribute mitochondria to the embryo while sperm does not The DNA in mitochondria is inherited only from the mother
44 Transmission pattern of mitochondrial disorders Unaffected father Affected mother Affected father Unaffected mother Unaffected Affected Affected Children Unaffected Children
45 Examples of mitochondrial disorders Leber optic atrophy - Visual loss beginning in young adulthood Leigh's disease (Subacute Necrotizing Encephalomyelopathy)
46 Types of genetic disorders 1) Single gene / Mendelian disorders 2) Chromosomal disorders 3) Multifactorial / Complex disorders 4) Mitochondrial disorders 5) Epigenetic disorders
47 Epigenetic disorders Caused by changes in the activity of genes, rather than a mutation in DNA Example: Cancers Expression of genes that slow cell growth (Tumor suppressor genes) Cell growth Expression of genes that increase cell growth (Proto-oncogenes)
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