All diseases and conditions (slightly easier than in the actual decks) Flashcards
Stargardt’s disease
Photoreceptors on retinal cells do not work or degenerate which causes vision to progressively worsen. Can be treated by injecting stem cells
Parkinson’s disease
A degenerative disorder of the central nervous system caused by the death of dopamine-secreting cells in the brain. Patients have tremors, rigidity, and slowness of movement. Stem cells can be used to replace the dead nerve cells with living, dopamine-producing ones.
Sickle cell anemia
Base substitution GAG to GTG, results in the amino acid valine instead of the normal glutamic acid. Recessive disease, (carriers are immune to malaria though). Hemoglobin clumps at low oxygen levels, and red blood cells change shape – cannot carry oxygen well, and clog arteries.
Cystic fibrosis
Most common genetic disease in Europe, Recessive, autosomal allele on chromosome 7, chloride channels do not work properly, and thick mucus builds up.
Huntingtons disease
Dominant autosomal allele on Chromosome 4. Causes degenerative changes in the brain
Hemophilia
Cannot clot blood since the protein factor VIII is not made. Gene is on the X chromosome, so sex-linked
Red-green colour blindness
Cannot see difference between red and green since one of the photo receptor proteins of the cone cells in the retina is defective. Sex linked characteristic on the X chromosome, that males get more often. Caused by damaged or missing red or green cones (photoreceptors) in the retina of the eye
Coronary heart disease (CHD)
Coronary arteries become partially blocked by fatty deposits, which can break off and form clots. Trans fats and saturated fats can increase risk, as well as low fiber intake
Diabetes Type 1
Beta islet cells do not produce insulin, so blood sugar remains high after eating. Usually appears in children. Treated with insulin from pics or genetically modified bacteria (since the DNA code is universal)
Diabetes type 2
Receptors do not respond to insulin, due to overweight, diet of too much sugar, genetics. Usually appears in older adults. Treatment is diet, weightloss, pills (sometimes insulin)
Overweight due to lacking leptin receptors or not reacting to leptin
Leptin is produced by adipose (fat) tissue and acts on the hypothalamus to reduce appetite. Leptin supplements do not often help, since the side effects are bad, and most people produce enough leptin, but they do not respond to it.
Cancer (different types have different causes)
Mutation in oncogenes (caused by mutagens), problems with mitosis, correlation with smoking, a high mitotic index can indicate cancerous tissue, metastasis = spread of a primary tumour to another tissue. Thyroid cancer correlation with radiation from bombing at Hiroshima and nuclear meltdown at Chernobyl.
Lung cancer caused by smoking and passive smoking, air pollution, radon gas and asbestos and silica particles. Low survival rate, only 15% more than 5 yrs.
Lactose intolerance
Immobilised lactase to make lactose free milk (immobilize the enzyme so it is not wasted, it is not in the final product, and it does not denature). It is also good to make milk sweeter for ice cream, so one does not have to add extra sugar, and it does not crystalize as much
Oxygen debt
When lactate builds up after anaerobic cell respiration in muscles, and must be broken down by oxygen after exercise
Trisomy 21 (Down syndrome)
3 of chromosome 21, because of non-disjunction during meiosis, when the homologous chromosomes do not separate properly in meiosis I or the sister chromatids do not separate in meiosis II. Seen in a karyogram made after amniocentesis or chorionic villus sampling. Higher age of parent correlates to higher incidence of this.
Atherosclerosis
Fatty tissue in the artery wall develops into an atheroma. Caused by LDL containing fats and cholesterol. Can become large and block the artery (occlusion = narrowing) – causing high blood pressure, angina = pain; low oxygen levels. Can rupture and cause a clot to form – leading to a heart attack or stroke. Due to high LDL, obesity, diabetes, smoking, stress, trans fats, some microbes (Clamydia and ones that produce TMAO)
Coronary thrombosis
Formation of blood clots in the coronary arteries that bring blood to the heart tissue (same causes as for Atherosclerosis)
HIV
A retrovirus (RNA virus that uses reverse transcriptase to make DNA copies of its genes in the host cell) that affects lymphocytes (Helper T lymphocytes), so that specific antibodies are not produced. Die of other diseases like pneumonia and Kaposis sarcoma (a skin cancer), From body fluids (sex, needles, blood transfusions)
Emphysema
Larger alveoli (less surface area for gas exchange) with thicker walls (harder for gasses to diffuse). Less elastic lungs. Causes: smoking, genetics. Breathe quicker to exchange air, tired, labored ventilation, often need oxygen supplements. Chronic = Irreversable.
Neonicotinoid poisoning
Pesticides block the receptors of cholinergic synapses to acetylcholine, causing insects to become disoriented – cannot find way home or to food.
Jet lag
Circadian (24 hour) rhythm is disrupted. Melatonin secretion from the pineal gland is disrupted (normally is secreted when it gets dark – receptors in the eye detects light and dark). Melatonin works on the hypothalamus, and even the kidneys. (body temp and urine production decrease at night) One can take melatonin when travelling over 5 time zones (east direction)
Metabolic disorders
Iodine deficiency or hyper- or hypo-thyroidism affects thyroxine production in the thyroid – which acts on all cells to control metabolism
Puberty
Caused by testosterone, estrogen and progesterone
Menstruation
Fall in progesterone
Ovulation
Large rise in LH, small rise in FSH
Meiosis in an egg
Rise in FSH
Birth
Fall in progesterone, rise in oxytocin
Repair of the uterine lining after menstruation
Estrogen
Need for IVF if unfertile
Drugs inhales to stop normal cycle – stop FSH and LH production; High levels of FSH and LH injected to promote super-ovulation; HCG injection to loosen the follicles, and follicles are washed out of the ovary; mixed with sperm and incubated until zygote forms and embryo starts dividing, implant in uterus, and progesterone is given as a tablet in the vagina
Spina bifida
Incomplete closure of the embryonic neural tube
Stroke
Death of cells in the brain due to insufficient blood flow. Can promote reorganization of brain function
Damage to Broccas area
Language impairment
Damage to the visual cortex of the occiptal lobe
Visual impairment or blindness
Brain death
The brain and brain stem no longer has any function. Can be tested by checking for a pupil reflex.
Deafness due to faulty cochlear hair cells
Can be treated with cochlear implants
Malaria
Caused by a one celled organism Plasmodium falciparum, which lives in the blood. Databases are used to find new drugs to kill the parasite
Skin color and height are examples of traits with continuous variation, and also can be affected by the environment
Caused by polygenic inheritance – more than one gene affects the trait, and the environment can affect. At least 3 genes code for the amount of melanin produced by cells
Epigenetics may affect phenotypes
Methyl groups added to DNA, or methylation, acetylation or phosphorylation of histone proteins, can increase or decrease which genes are transcribed, and affect the next generation
Smallpox
First disease to be eradicated by vaccination – worked because: no animal reserve, no long incubation time, long lasting immunity
Zoonosis
Pathogens that cross the species barrier and can affect other animals and humans like Lyme disease, Nipah fever, Bubonic plague, Covid,…
Allergies
Caused by excess production of histamines by mast cells. Cause swelling of the area, redness, extra mucous) Can take anti-histamine medicine to reduce.
Dehydration
Dehydration caused by low intake of water, too much sweating, diarrea = dark urine, lethargy, low blood pressure, increase in heartrate, increase in body temp due to lack of sweat
Addiction
Can be affected by genetic pre-disposition, social environment and dopamine secretion
