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Use the content guides included in the course outline
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Know and be able to apply terms:
Chromosomal translocations are large changes in chromosome structure in which a piece of one chromosome is translocated to another chromosome. Can be reciprocal or Robertsonian translocation
∙ Reciprocal translocation occurs when breaks take place in two different chromosomes and the broken material is exchanged. The carrier with this translocation is usually normal, but his or her offspring could have duplications or deletions
∙ Robertsonian translocation- the long arms of two nonhomologous chromosomes fuse at the centromere, forming a single chromosome. Usually confined to chromosomes 13, 14, 15, 21, and 22 because their short arms are very small and contain no essential genetic material
o The short arms are usually lost during cell divisions, but the carrier is usually normal since the small arms are non-essential. Their offspring, however, may have serious monosomies or trisomies.
o Responsible for 3-5% of Down syndrome
Ex: long arm of 21 and 14 fuse. An off spring who receives this fusion through a gamete can receive an extra copy of the long
arm 21 and develop Down syndrome
Breakage- during meiosis and mitosis, chromosomes usually maintain their structural integrity, however chromosome breakage occasionally occurs. Some of these break aren’t repaired in the correct way, or just remain, and can result in altering the chromosome’s structure. If you want to learn more check out How well am i measuring what i want to measure?
∙ Risk of breakage increases with exposure to harmful agents called clastogens (e.g. ionizing radiation, viral infections, or some types of chemicals)
Fragile areas- an area of a chromosome that tends to break. A number of areas on chromosomes develop distinctive breaks and gaps when cells are cultures. These fragile sites do not appear to be related to disease, however one fragile site on the X chromosome is associated with fragile X syndrome.
∙ Fragile X syndrome is the second most common genetic cause of intellectual disability (1st is Down syndrome). Females who inherit this condition may not express it, but they can pass it on to offspring who can express it. Ordinarily a male who inherits a disease gene on the X chromosome expresses the condition., because he only has one X. Don't forget about the age old question of What are the two types of errors for measurements?
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o Males express this disorder more severely than females.
X linked recessive- will cause disease in the male, but 2 copies are needed in the female because it is recessive and she has 2 X chromosomes. Therefore more males are affected by X linked recessive traits than females.
∙ Ex: red-green color blindness, Duchenne muscular dystrophy, hemophilia A and B
Autosomal aneuploidy- the presence of an abnormal number of chromosomes in a cell (ex: person having 45 or 47). Trisomy, having an extra copy of a chromosome, can occur for any chromosome. The best know example is trisomy of chromosome 21, which causes Down Syndrome.
∙ X linked aneuploidy example: Klinefelter X linked aneuploidy- individual has at least 2 X and 1 Y chromosomes in each cell that can lead to physical and mental impairments in males they develop female-like breasts, they are sterile, and gynecomastia
Autosomal dominant- diseases caused by this are rare. Affected offspring usually produced by the union of a normal parent with an affected heterozygous parent. Heterozygous for the disease Half the children will be heterozygous and will express the disease and half will be normal
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∙ Ex: Marfan syndrome- disorder of connective tissue that creates hyper elasticity in connective tissue. Affected are usually tall and thin with long extremities, largest concern is aortic rupture.
Autosomal recessive- expression rare, but there can be numerous carriers. Some are characterized by delayed are of onset, incomplete penetrance, and variable expressivity.
∙ Examples: sickle cell anemia, cystic fibrosis, PKU, Tay Sachs Diagram below: HbA HbS= trait
o Tay Sachs disease- cause by a deficiency of the lysosomal enzyme HexA. Onset occurs in infants aged 4-6 months. Symptoms:
exaggerated response to loud noises, seizures, developmental
regression, dementia and blindness. Death is almost universal at 5yrs of age.
o Phenylketonuria (PKU)- inability to metabolize the amino acid phenylalanine. They need a special diet in which they avoid We also discuss several other topics like What is an average deviation score?
phenylalanine (milk, dairy products, meat, fish, chicken, eggs, beans, and nuts. If left untreated it can cause irreversible brain damage, if you follow the diet you can prevent brain and intellectual damage
Epigenetic changes- chemical modifications that alter the expression of genes. A major cause of epigenetics is DNA methylation, or the attachment of a methyl group to a cytosine base. When heavy methylation is located near a gene, that gene is les likely to be transcribed (aka silenced).
Beckwith-Wiedemann syndrome- caused by insulin-like growth factor 2 (IGF-2)on chromosome 11 is inherited twice from the father and none from the mother. Manifestation would be identifiable at birth because the baby is larger than gestational age, hypoglycemic, have a large tongue, creases in earlobes, incomplete closure in the abdominal cavity risk for kidney tumor ∙ Upregulation of IGF-2= overgrowth
Russell-Silver syndrome- characterized by growth retardation, proportionate short stature, leg length discrepancy, and a small, triangular face.
∙ About 1/3 of Russell-Silver syndrome cases are caused by imprinting abnormalities on chromosome 11p15.5 that lead to down regulation of IGF-2 and therefore diminished growth.
o Down regulation of IGF-2= undergrowth
Cellular components of Inflammation (second line of defense) and their functions
∙ Vascular epithelium becomes a principle coordinator of blood clotting and the passage of cells and fluid into tissue.
∙ Mast cells- probably the most important activators of inflammation o Mast cells are cellular bags of granules locate in the loose connective tissues close to blood vessels Contain histamine, cytokines, and chemotaxic factors
o Degranulation- The release of the contents of mast cell granules o Synthesis- the new production and release of mediators in response to a stimulus
∙ Dendritic cells- connect the innate (1st line of defense) and acquired (3rd line of defense) immune responses
o Migrate through lymph vessels to lymph tissue and interact with T lymphocytes to generate and acquired immune response
∙ Erythrocytes (RBC) carry oxygen to the tissues
∙ Platelets are involved with clotting
∙ Leukocytes- fight pathogens
o Granulocytes- most common leukocyte, can be three different types Basophils
Eosinophils- defend against parasites and regulation of vascular mediators
Neutrophils- predominant in early inflammation, ingests
bacteria, dead cells, and cellular debris
o Monocytes- precursors to macrophages that are found in the tissue o Lymphocytes- participate in the innate immune response and the acquired immune response
∙ Plasma proteins
o Complement (Produces biologically active fragments that recruit phagocytes, activate mast cells, and destroy pathogens)
o Coagulation (prevents the spread of infection)
o Kinin (Causes dilation of the blood vessels, pain, and smooth muscle contraction, increases vascular permeability)
∙ Cell receptors, products
o Cytokines-intercellular signaling molecules that are secreted, bind to specific cell membrane receptors, and regulate innate or adaptive immunity
o Can be pro-inflammatory or anti-inflammatory in nature depending on whether they tend to induce or inhibit the inflammatory response
Key players in immunity
∙ B lymphocytes- bone marrow derived, leave the bone marrow as incompetent in that they have the capacity to respond to antigens, but they are naïve in that they have not yet encountered an antigen, they migrate to secondary lymphoid organs (spleen, lymphnodes). They it goes through the clonal selection whch is initiated when infection occurs antigens are processed by phagocytic cells (dendritic), then they present the antigen to the B lymphocyte, cytokines are released and then the B lymphocyte differentiates into a plasma protein that creates antibodies.
∙ T lymphocytes- go through this same process but they can turn into T helper cells, T regulator cells, T cytotoxic cells, or memory cells.
∙ IgG- monomer (has just one Y)
o Most abundant class at 80-85% of the antibodies are IgG second on scene after IgM
o Accounts for most of the protective activity against infections o Transported from mother to fetus across the placenta
o 4 different classes (1-4)
∙ IgA- dimer with a J chain (has 2 Y’s)
o Has 2 classes
IgA- found predominantly in the blood
IgA-2 (secretory IgA) molecules are found predominantly in
bodily secretions (most important)- part of the secretory system ∙ IgM- pentomer (has 5 Y’s)
o Largest of the immunoglobulins
o Pentomer stabilized by a j chain
o First antibody produced during primary response to an antigen o Synthesized early in an neonatal life
∙ IgE- monomer
o Least concentrated because they defend against parasites
It initiates an inflammatory response which attracts the
o When produced against innocuous environmental antigens, they are a common cause of allergies
o Accounts for allergic responses
∙ B cells interact with IGE, parasite antigen degranulates
the mast cells which releases ECF which attaches to the
eosinophils, the capillaries open which allows the
eosinophils out which then attach the parasite.
∙ IgD- monomer
o Low concentration in the blood and functions as one type of B cell and antigen receptor
Three types of immunity:
∙ Innate- natural and you’re born with it
o Includes natural barriers (physical, mechanical, and biochemical) that form the first line of defense at the body’s surfaces
o Also includes the second lie of defense: inflammation which is programmed to respond to tissue damage, whether the tissue is septic or sterile.
o Includes wound healing
∙ Adaptive/Acquired immunity- third line of defense
o Active- includes the production of antibodies after the recognition of a foreign, or even local , antigen
o Passive- when the body receives preformed antibodies or T cells from another source.
Could be from maternal transmission in which the fetus receives some immunity from the mother, but this only lasts for the first 6 months of the baby’s life.
∙ Artificial- receiving immunoglobulin
o She gave an example where she use to have to get immunoglobulin shots for Hep A
o She also gave an example of if a person gets bitten by an animal who potentially has rabies, then they get the immunoglobulin that will prevent them from getting rabies.
Four types of Hypersensitivity reactions
1. Type 1- IgE hypersensitivity
a. Against environmental antigens (allergens) after initial exposure. b. IgE binds to Fc receptors on surface of mast cells
c. Histamine released from mast cell degranulation
d. Most common allergic reactions are type 1 (remember IgE has to do with allergie-e-e-es)
i. GI allergies result in nausea, vomiting, diarrhea, and abdominal pain
ii. Skin manifestations include urticarial (hives)
iii. Mucosal allergens manifest as conjunctivitis, rhinitis, asthma iv. Lung allergens anifest as bronchospasms, edema, and thick secretions
2. Type 2- Tissue-Specific Hypersensitivity reactions
a. Generally reactions against a specific cell or tissue (IgM or IgG) certain cells and tissues have their own unique group of antigens b. What happens: on the surface of the specific cell type is an antigen to which the body thinks is an invader.
c. Environmental allergens can also bind to a specific cell and then that cell becomes a target for type II reaction
d. 5 mechanisms by which type II can affect cells
i. The cell is destroyed by antibodies and complement
ii. Cell destruction through phagocytosis
iii. Soluble antigen may enter the circulation and deposit on tissues, tissues destroyed by complement and neutrophil granules
iv. Antibody-dependent cell-mediated cytotoxicity (ADCC)
v. Target cell malfunction (EG graves- targets thyroid)
3. Type 3 Immune Complex- Mediated Hypersensitivity reactions a. Antigen-antibody complxes are formed in the circulation and are later deposited in vessel walls or extravascular tissues
i. Large release of lysosomal enzymes
b. Not organ specific (differs from 2)
c. Ex: serum sickness and Arthus reaction
4. Type 4 Cell-Mediated Hypersensitivity reaction
a. Mediated by T lymphocytes and do not involve antibodies!
b. Cytotoxic T cells attack ad destroy cellular targets directly
c. Th1 and Th17 cells produce cytokines that recruit and activate phagocytic cells, especially macrophages
i. Examples: graft rejection, kin test for TB, allergic reactions
resulting from contact with substances such as poison Ivy and
ii. Can also be the cause of some autoimmune diseases
Hashimotos (usually in older women and leads to
hyperthyroidism, goiters, and even some heart problems)
Composition of antibodies and their functions
∙ Antibodies kind of look like a Y
∙ The antigen binding fragments create the recognition sites (receptors) for antigen determinants
∙ Fc Crystalline fragment is responsible for biologic function- can vary and determines the function of the antibody
∙ Polypeptide chains are the top two segments of the Y
o The light chain is the outer green portion
o The heavy chain is the inner purple portion
∙ Antigenic determinant (epitope) area of the antigen is where the antigen is recognized by the antibody
o Once again, it is on the antigen
∙ Antigen binding site (paratope) is the place where the antigen fits into the antibody like a lock and key (between the light and heavy chains) o Once attached, the antigen is held in place by noncovalent chemical interactions
Primary (congenital) immune deficiency
∙ Most are the result of a single gene defect and are generally not inherited this means epigenetic!
∙ May appear early or late in life, and is rare but rates are increasing ∙ May lead to recurrent life-threatening infections.
∙ 3 most common deficiencies:
o Common variant
o Selective IgA
o IgG subclass
∙ Combined deficiencies result from underdevelopment of T and B lymphocytes o Ex: severe combined immunodeficiency (SCID)- results in few detectible lymphocytes, underdeveloped thymus and absent or reduced IgM and IgA levels
o Wiskott-Alldrich Syndrome and DiGeorge Syndrome are examples ∙ Predominantly antibody deficiencies have a defective B cell development which may affect only one class of Antibody or several
∙ Phagocyte defects lead to Chronic Granulomatous Disease (CGD) which causes deficient production of hydrogen peroxide and oxygen products needed for phagocytic killing
∙ Defects in innate immunity is a defect in capacity to produce immune responses. Can lead to chronic Mucocutaneous candidiasis (severe recurrent yeast infections) because macrophages cannot be activated
∙ Lastly, Complement deficiencies- C3 deficiency is severe because of the critical role C3 plays in the complement cascade results in recurrent life threatening infections
Secondary (Acquired ) immune deficiencies
∙ More common than primary deficiencies, but not often clinically relevant because of how minor they are.
∙ Due to complications of other physiologic or pathophysiologic conditions. ∙ The immune system may be substantially suppressed, but only for a short duration manifestations include frequent infections
o Children normaly have 6-12 infections in a year
o Adults have 2-4 infections annually when beyond these ranges, or there is a recurrence of a rare condition, that’s when a clinician suspects a problem.
∙ T cell deficiencies would manifest as viral, fungal, yeast, and atypical microorganisms
o AIDS is an example it is caused by a viral disease (HIV) which depletes the body’s T helper cells and destroys the CD4 T helpers ∙ B cell and phagocyte deficiencies
∙ Complement deficiencies
Apoptosis vs necrosis
∙ Apoptosis- programmed cellular death and is generally how cells die at the end of their lifecycle, they are then replaced by new cells.
o The normal way a cell breaks down is by disassembling the internal components of the cell and the cytoskeleton. The cell then shrinks and forms small buds and the cellular membrane does not break!
o Pathophysiological way is when the body basically consumes itself (autophagy)
If a person goes through starvation the body will break itself down and recycle its nutrients.
∙ Necrosis – final result of irreversible cell damage which is more problematic than apoptosis
o When you can’t make ATP, the Na+/K+ pump fails. Na will try to enter the cell, water enters the cell (vacuolation) and K will rush out. Calcium enters the cell and will activate enzymes that damage the cell
membranes and the cell will burst.
∙ The conclusion of inflammation
∙ Two types:
o Primary intention- wounds that heal under conditions of minimal tissue loss and almost all of it is resolved (cut in the skin)
o Secondary intention- wounds that require a great deal more tissue replacement (usually an open wound)
∙ The steps to wound healing
1. Inflammation- begins almost immediately. There iscoaulation in which the bleeding stops, infiltration in which wound healing cells move into the area, and angiogenesis in which new capillaries are formed in the area
2. Proliferation and New tissue formation- this begins 3-4 days after the incident and takes up to 2 weeks to complete
a. Granulation – red granular appearance of the wound bed due to invasive cells, new lymphatic vessels, and new capillaries
b. Epithelialization- new cells migrate from surrounding healthy tissue starts under the clot or scab and undergoes cell differentiation to match the cells around it
c. Requires fibroblast proliferation, collagen formation, and wound contraction (this is when the itchiness happens
3. Remodeling and Maturation
a. This occurs a couple of weeks after the injury and may take up to 2 years to complete
b. There is a continuation of cell differentiation
c. Sometimes scar tissue forms if the wound is avascular
∙ Sometimes wound healing doesn’t go as planned. This is what we call Dysfunctional wound healing
o Can occur at any stage of wound healing due to many influences o Ischemia ay deprive the wound of oxygen which prolongs inflammation and there is also not enough energy being made which leads to collagen synthesis
o Excessive bleeding increases the amount of space that must be filled in, or a bacterial infection could occur
o Excessive fibrin deposition- fibrin isn’t reabsorbed so there are fibrin adhesions
o There could be excessive production of collagen which lead to hypertrophic scar (normal scar) or Keloid scar (raised and past the boundaries of the wound)
o Dehiscence- when the wound pulls apart at suture line
o Impaired contraction in which there is excessive contraction- can leave joints hard to move
Autoimmunity and alloimmunity
∙ Autoimmunity is a disturbance in the immunologic tolerance ofsel-antigens body recognizes itself as foreign.
o They occur when the immune systemsreactsto its own self-antigen to such a degree that autoantibodies or autoreactive T cells damage the individual’s tissues more prevalent in women
∙ Alloimmunity occurs when the immune sytem of one individual produces an immunologic reaction against tissues of another individual i.e. transfusions, r fetus during pregnancy
ABO and Rh
∙ Blood type A has A antigens on the erythrocyte and Anti B antibodies floating around.
∙ B had B antigens and anti-A antibodies
∙ AB expresses both A and B antigens but has no antibodies
o Because this blood type lacks both anti-A and anti-B antibodies, they are known as universal recipients
∙ O expresses neither A or B antigen and has both anti-A and anti-B antibodies in the serum.
o Because people with this blood type lack both antigens, they are considered universal donors
∙ Rh blood group is a group of antigens expressed only in erythrocytes. Those who express the D antigen are Rh-positive, and those who do not are Rh negative.
o Rh-negative individuals can make an IgG antibody to the D antigen (anti-D) if exposed to Rh-positive blood type
Hemolytic disease of the newborn is when anti-D antibodies are made by Rh-negative mothers against erythrocytes of their Rh
∙ Cancer- mutations in a single cell that grows out of control
Low mitotic index
High mitotic index
Do not metastasize
Can spread distantly (metastasis)
∙ Cancer is predominantly a disease of aging and multiple mutations are required before cancer can develop
o 2 genetic events give rise to genetic mutations that may result in cancer (uncontrolled cell proliferation
1) genetic overstimulation (sustained proliferative signaling) of a dominant gene, called a proto-oncogene
∙ Proto-oncogenes regulate normal cell processes and
promotes growth. If there is a mutation in these genes,
they act as oncogenes- mutations may result from
carcinogenesis of oncogenic viruses
2) inhibited oncogenes process
∙ Normally tumor suppressor genes suppress tumor growth.
∙ As a result of mutations in the tumor suppressor gene
mutations, they lose the ability to suppress this growth
The 10 Hallmarks of cancer
∙ Sustained Proliferative signaling
∙ Avoiding immune destruction
∙ Evading growth suppressors- mutation (inactivation) of tumor-suppressor genes which allows unregulated cellular growth
∙ Enabling cell immortality- telomeres are protective caps on each chromosome and are held in place by telomerase. Cancer cells activate telomerase so that they go through unlimited cell divisions and proliferation.
∙ Tumor promoting inflammation- chronic inflammation is an important factor in the development of cancer
∙ Activating invasion and metastasis
∙ Genomic instability- increased tendency for genomic mutations during life cycle of the cell so the risk for cancer increases
o There are mutations in caretaker genes which are involved in repairing damaged DNA
o Instability may result from increased silencing or modulation of gene functioning’
o Chromosome instability
∙ Inducing angiogenesis- advanced cancer cells can secrete angiogenic factors (VEGF) Vascular endothelial GF, platelet-derived GF, basic fibroblast GF which helps form capillaries and vessels in the cancer
∙ Resisting cell death- cancer cells ignore signaling for programmed cell death ∙ Deregulating cellular energetics- Warburg effect activated by oncogenes and mutant tumor suppressors. Some cancer cells have developed mechanisms to use oxidative phosphorylation and glycolysis.
Environmental factors and behaviors associated with cancer
∙ Tobacco use- cigarette smoking is carcinogenic and remains the most important cause of cancer.
o Causes cancer in more than 15 organ sites, and exposure to secondhand smoke (or environmental tobacco smoke) and parental smoking causes cancer in other people.
o It is the largest preventable cause of cancer!
o Linked to cancer of the lung, upper aerodigestive tract (oral cavity, pharynx, larynx, nasal cavity, paranasal sinus, esophagus, and
stomach), the lower urinary tract, kidney, pancreas, cervix, and uterus, as well as myeloid leukemia
∙ Diet and nutrition- affect development of cancer due to the variety of foods eaten, the many constituents of food, the metabolic consequences of eating, and the temporal changes in the pattern of food use.
o Dietary sources of carcinogenic substances comes from cooking of fat, meat, or protein and naturally occurring carcinogens associated with pant food substances, such as alkaloids or mold byproducts.
o Nutrition has a large effect on the cell cycle, the balance between cell death and cell proliferation, cell differentiation, genes, cell signaling, and much more.
∙ Obesity- risk factor for cancers of the endometrium, colorectum, kidney, esophagus, breast, and pancreas.
o Also a poor prognostic factor for most cancers
o Influences insulin-like growth factor 1, sex hormones, and adipokines all linked to metabolic dysregulation of adipose tissue and endocrine and paracrine altered signaling of adipose tissue in obesity.
∙ Alcohol consumption- linkage between excessive alcohol consumption and cancers of the mouth, pharynx, larynx, esophagus, liver, colorectum, and breast.
∙ Physical Activity- reduces the risk of breast and colon cancers and may reduce the risk of other cancers including endometrial, lung, and prostate cancers.
o Due to decreasing IGF levels, decreasing obesity, increasing free radial scavenger systems, decreasing levels of circulating sex and other hormones
o There are still many questions as to the frequency and intensity of physical activity that has a positive effect on cancer prevention
∙ Other environmental factors: radiation (xray and ultraviolet), infection, sexual and reproductive behavior, air pollution, chemical and occupational health
Patterns of cancer in children and adolescents
∙ Rare but leading case of death from disease in children
∙ More than 15,500 children under the age of 19 were estimated to be diagnosed with cancer in the US in 2014 slightly more prevalence in boys than girls.
∙ Most originate from the mesodermal germ layer (layer that gives rise to connective tissue, bone, cartilage, muscle, blood, blood vessels, gonads, kidneys, and lymphatic system
∙ Usually sarcomas vs carcinomas in adults and usually discovered during peak growth periods
o Most childhood cancers are leukemias, sarcomas, and embryonic tumors
Embryonic tumors originate during intrauterine life which results in immature embryonic tissue unable to mature or differentiate into fully developed cells
∙ Most do not demonstrate predisposing environmental factors, so it is usually due to
o Genetic factors- chromosome abnormalities including neudoploidy, amplification, deletions, translocations, and fragility
Certain congenital syndromes and cancers occur together
Wilms tumor and urogenital abnormalities, Downs syndrome and leukemia
o Issues with Oncogens and tumor-suppressor genes which can lead o Fanconi anemia and bloom syndrome
o Environmental factors usually include prenatal exposure to drugs/tobacco smoke and ionizing radiation (x-rays, CT scans, radioisotopes, etc.) and also childhood exposure to drugs, EMFs and viruses
∙ Prognosis- more than 0% of children are cured, survival rates are higher in children under 15 years because younger children are more likely to be enrolled in clinical trials
o Survivors have an increased risk of cancer later in life* due to lingering effects of chemotherapy and radiation.