Autosomal Recessive Inheritance and Genetic Disorders

• The Golgi apparatus processes and packages proteins.
• Ribosomes synthesize proteins.
• Ribosomes are associated with the rough endoplasmic reticulum.
• Free ribosomes are found in the cell's protein factories.
• Mitochondria make ATP.
• Mitochondria use nutrients like glucose and oxygen to create energy for cellular respiration.

Mitochondria Structural Features

• Key features include cristae, matrix, and inner and outer membranes.
• Smooth and rough ER are involved in protein synthesis and transportation, as well as lipid synthesis.
• DNA in the nucleus is transcribed into mRNA, which then leaves through the pores to the cytosol.
• In the cytosol, ribosomes (composed of protein and rRNA) read the mRNA.
• Ribosomes work with tRNA to produce and form amino acids into a protein.
• Microtubules are part of the cytoskeleton and act as the "bones" and "muscles" of the cell.

Eight Cellular Functions

• Movement
• Conductivity
• Metabolic Absorption (all)
• Secretion
• Excretion (all)
• Respiration (all)
• Reproduction
• Communication
• All cells contain the same DNA but express themselves differently based on location and environment.
• Anabolism uses energy to build molecules (e.g., fatty acid + fatty acid + ATP = Lipid, "Add").
• Catabolism breaks down molecules to create energy (e.g., protein = amino acid + amino acid + ATP, "Cut").
• Anaerobic metabolism takes place without oxygen.
• Aerobic metabolism can proceed only with oxygen.
• Passive diffusion doesn't use energy and goes down the concentration gradient.
• Substances like CO2, oxygen, and alcohol diffuse across the plasma membrane without protein involvement.
• Facilitated diffusion also uses passive transport, going down the concentration gradient but with the help of a membrane protein.
• Osmosis is a type of passive transport where water moves down its concentration gradient.
• Active transport uses energy and a membrane pump to move against the concentration gradient (up).
• Epithelial tissue covers the outside of the body and lines organs and cavities.
• Connective tissue binds tissues and organs together, including adipose, cartilage, bone, and blood.
• Nerve tissue contains specialized cells like neurons and glia.
• Muscle tissue is composed of myocytes and can be striated, cardiac, or smooth.

Adaptations

• Atrophy is a decrease in cell size, such as in the thymus gland or disuse atrophy.
• Hypertrophy is an increase in cell size due to mechanical stimuli (e.g., myocyte enlargement due to hypertension).
• Hyperplasia is an increase in the number of cells (e.g., in the liver or during the start of cancer).
• Metaplasia is a change from one cell type to another, like when chronic irritation from cigarette smoke causes ciliated pseudostratified epithelium to be replaced by squamous epithelium.
• Dysplasia is the abnormal change in the size, shape and organization.
• Benign tumors do not spread, unlike malignant tumors.
• In situ tumors are pre-metastatic and have not yet spread.

Cell Injury and Death Causes

• Physical factors
• Radiation
• Chemical factors
• Nutritional imbalances
• Hypotoxic injury (lack of oxygen)
• Free radical injury (caused by radiation, diet, mitochondria, smoking, pollution)
• Apoptosis is self-destruction of a cell, occurring physiologically (e.g., during embryonic processes or after breastfeeding) or pathologically (e.g., in Alzheimer's or Parkinson's).
• Necrosis is unprogrammed cell death due to changes in the environment and always involves inflammation.
• Chromosomes are threadlike structures of nucleic acids and protein found in the nucleus, carrying genetic information in the form of genes.
• All cells in the body have 23 pairs of chromosomes, except egg and sperm cells, which have 23 single chromosomes.
• Homozygous individuals have two identical alleles for a trait.
• Heterozygous individuals have two different alleles for a trait.
• Autosomes consist of 22 of the 23 pairs of chromosomes.
• Sex chromosomes are X and Y chromosomes, making up 1 pair of the 23 autosomes (XX for female, XY for male).

Genetic disorders

• Single-gene disorders
  • Autosomal dominant/recessive
  • X-linked dominant or recessive (recessive is more common)
• Multifactorial
• Autosomal dominant disorders affect male and female offspring equally.
• Marfan Syndrome is an autosomal dominant inheritance affecting connective tissue, causing long, thin limbs and potential ocular, skeletal, and cardiovascular anomalies.

Chance of being Affected

• If one parent is heterozygously affected, children have a 50% chance of being affected

• If both are heterozygously affected, children have a 75% chance of being affected

• Autosomal recessive disorders includes carriers and affects both sexes equally (e.g., cystic fibrosis, PKU, Tay-Sachs).

• If both parents are affected, all children will be affected.

• If one parent is affected and the other isn't a carrier, all offspring will be unaffected, but will be carriers.

• If one parent is carriers, each offspring has a being affected 25% , and 50% of being a carrier

• • Cystic Fibrosis is a genetic disorder affecting respiratory and digestive systems, leading to mucus buildup in sinuses, lungs, and other organs.

• Diagnose it by testing sweat for elevated chlorides levels and is preventable.

• Phenylketonuria (PKU) is an inherited disorder disrupting protein metabolism, causing intellectual disability.

• It Requires diet restriction (meats, eggs).

• Tay-Sachs is a fatal genetic disease causing fatty material buildup in nerves, brain, and retina, leading to brain damage, cherry spot on the retina, and death by 2-5 years.

• Sex-linked inheritance is caused by genes located in the sex chromosomes, usually affecting males (females are carriers) and are recessive.

• Males with an X-linked recessive disease cannot transmit the affected gene to sons but can to all daughters.

• Down Syndrome (Trisomy 21) is a chromosomal disorder caused by an extra copy of chromosome 21, resulting in 47 chromosomes.

• Turner Syndrome is a chromosomal disorder in females where a sex chromosome is missing (XO), leading to lack of secondary sex characteristics and sterility

• Body fluids transport nutrients and waste, generates electrical activity, and transforms food into energy.

• Total body water (TBW) comprises intracellular (40%) and extracellular (20%) fluids

• Extracellular fluid is divided into interstitial, intravascular (plasma and lymph), and transcellular fluids.

• TBW decreases with age due to renal decline, diminished thirst perception, and decreased free fat mass & muscle mass.

• Intracellular fluid (ICF) is fluid inside cells with a high concentration of K, while extracellular fluid (ECF) is everything else with high Na concentration.

• Osmolarity: concentration

• Organ systems in fluid balance: kidneys, lungs, heart, adrenal/parathyroid/pituitary glands

• The kidneys excrete or retain electrolytes to maintain balance and the lungs regulate oxygen concentration.

• The heart provides blood to other organs, and adrenal glands secrete aldosterone to retain sodium & water while excreting potassium.

• Parathyroid glands regulate blood calcium and phosphorus levels, while the pituitary gland secretes antidiuretic hormone (ADH) to retain water.

• Diuretics lead to excretion of every electrolyte in the urine, except calcium.

• Osmotic forces influence water movement from one solution to another through osmosis.

• Net filtration is the balance of forces favoring filtration minus forces opposing filtration.

• Starling forces: capillary hydrostatic/oncotic pressure and interstitial hydrostatic/oncotic pressure.

• Edema is the accumulation of fluid in the interstitium and can be localized, generalized, or pitting.

• Daily weight, visual assessment, measurement, and application of finger are methods for assessing edema.

• ADH, secreted by the pituitary gland, increases water reabsorption into the plasma.

• Natriuretic peptides (ANP, BNP) are released by the heart and increase excretion of Na by the kidneys.

• The RAAS system regulates h2o and sodium balance and contributes to vasoconstriction.

• Isotonic alterations do not change concentration (equal loss/gain of fluid and solutes).

• Hypertonic alterations result in sodium gain or water loss (hypernatremia), with water movement from the ICF to the ECF (intracellular dehydration).

• Hypotonic alterations decrease osmolality, cause hyponatremia, and leads to water excess in ECF.

• Isotonic dehydration: equal loss of fluids/solutes inadequate electrolyte fluids.

• Hypertonic dehydration: more water loss than electrolyte loss, can be caused by ketoacidosis/prolonged fevers/diarrhea.

• Hypotonic dehydration: loss of more electrolytes than water, can be caused by chronic illness.

• Assessment of Fluid Loss:

  • HR
  • BP
  • Venous volume
  • Capillary Refill Rate

• Isotonic Overhydration: results from excessive fluid in, causes circulatory overload & edema

• Hypertonic Overhydration: fluid is drawn from the Intracellular, leading to water intoxication

• Hypotonic Overhydration: electrolyte disturbes result from dilution

• Sodium (Na) is the primary determinent of plasma osmolotity, normal values of are 135-145 mEq/L, and is essential in nerve impulses/muscle contraction

• Too little Sodium results in hyponatremia, common in elderly.

• Hypoantermia's on the nervous system causes:

  • lethargy
  • headache
  • disorientation
  • confusion
  • seizures
  • coma

• Hypoatermia progresses to loss of ECF and Hypovolemia or excess water (hypervolemic hypoatremia)

• Too much sodium results in hyperatremia which can be caused by descreased excreation, decreased intake, Increased intake or water less

• Potassium levels regulate at 3.5-5.0 mEq/l by renal and transcellular buffer system

• When pH changes it affects the PH, aldosterone, insulin, and epinephrine Why does a change in pH affect the balance/concentration of K?

• Accumulation of hydrogen in the ICF during a state a acidosis causes K shift out of the cell to maintain a cation balance with an extracellular compartment

• Too little potassium causes Hypokalemia ( <3.5), which described by changes in plasma potassium levels.

• Hypokalemia is caused by reduce intake of potassium/ entry into, steroids/cusing sydrome/ increased loss-GI, Rhenal =

• Llower levels of K make it "further form action" as it lowers threshold.

• Hypokalemia causes blanks in EKG

• Hyperkalemia causes >5.0 mEq/l. Initial signs are membrance muscle depolarization, initally increased nueromuscular irritability. The cause of hyperkalemia is increased intake, shifr of K from ICF to ECF, decreaced renal excretion or anrenal renal problems-addisons

• calcium normal ranges is 8.5-10.5. Main uses: bone tooth stucture/blood clotting/hormone secretion/contraction/ function/permeability. maintained by the ECF by PTH

  • if too low it actives P
  • high it PTHi is stored in the bone

• Vitamin D acts to sustain normal calcium levels and increases phosphate from the GI tract, and is inversed with CA and P.

• Hypocalciemia is inhibirbion of Ca absorption tract, and causes chvostek's sign, and is caused by tetany, hyperca is opposite.

• Phosphates provide 2.2-4.45 provides energy in muscle, which can cause respitory failure by malnurrtiton.

• Magnesium increases neuromuscular excitability and the range is 1.5-2.5, caused by malnutrition, alcoholism, dibetes. The symps is anorexia/ depression/irritability reults form reanl failure. It is due to the exessive intakes of antacids, lethargic,d, drowsy due do DEEP TENDON REFLEXES, decreased respi-.

• Organs are made up kidneys, urrrters, urinary spincter. The reults is Kidney excrete in the urine to vitamin D.

• The arterols help with brings blood/ takes away and ammnonis to urea( kidney)

• The BUN (blood urea) if GFR decreases/dehydration of renal failure it will also decrease/

• the range is 10=20

• 0.6-1.2mg/dl if high c-kif=dney filature A: efferent arteriole brings the blood to the glomerular capsule where everthing is filtered( glocuse, Na,K. waste) Then back to to arteitoie, and that what tublar reabrosption os hapaning to the artole to give the body what need. Some capsule dont fiter, then that will be "wast."

• Retentions happen in tubular( adh and retention), "rbcs protien Kidneys "filter" for balance:

• maintain fliuid vol and comosition

• regulate bp and paritcate to acid base and erythprotitin

• Renin is released bwhen blood is low from the kidney causes and increase in constriction

• Atrial, synthesized in heart and vasodilator

• Tubular reabsorption:ADH=posterior pitary gland

• urine productin:1L adluts,

• oligurs: amount of urine

• Absent to urine

• Renal urine:

  • ureter--> perstaicwaves--->bladder

• Enlargment renal palivs from backup fluid =Abnormal from dialation of kidneys Super sat and intake of sodium, high c,d, kidney stones. 20-40 men . increase intkae if flod and PH of urine Calcuim and strutive/unric acid

• pain to lower side

• Low urinary tarct and pain voiding, can't voind

• meds, additional fluids, diet that affects alters urin properties ( crabary juice) Renal infection : antibiotics, and the use of "protecticm and IgA T,S

• Priel,chills Cloudy urin/pain/ tachy, pain-antibiotic, pain meds etc-

• glomureal, proteinua Hemtauria oilguria edema, History-test, urine

• AKI- renal 25

• Sudden decline with a decrease in blood, glom or bun= recersble Low of flow, damage, and a obstruction

• most common prerenal, 25%

• ATN-> drugs renal bilatery/ bladded tumors

• proessively kidney failure and high 7

• Progresseivly over mothys and years, to the kdignyes comopostitosm, not sufreict to AT, SLE + HNT, SLE

• loss off nerphons,

• end= no metabolsim. The kidney in the unalbe to fix wastes

• Uremiz haigh k,c metbaokoc aciofdos,

• diuretics drugs diets.

• incontsince and overflowm lack bladder,

• bone fucu-= mecanicsl, size, protcet +metaolsism

• cartlidge+musice to bone

REST (R.I.C.E)

• Ligaments (bone-bone).

• Fractures -redictioin, and if not close, it's a surgical intervention immobizatiion+ and 4 stages -HEMO-> FIBON-> BONE remodel"

• delalyunintin

• malunition

• NonUNION

• bones, stress, disoders

• fractures and the 6p= pain/parestesia Are women more at risk for hip fracture? if so, why? -ye s lower

• estrogen/ and abduction post op + stocking

• Osterprotorsis= fragile bones/predsippoe to fracture

• Endricie=

• kpho->s

• bone deartyily - exercise.

• Hr-cytoiknies, in bones.

• Osut=o infecti-> bone infection in childer Oragans to the bones pus accumulate dead

• Antibitotics and debmrite

• Joints and arthrity

• Oste=grow, and cartli e=syniovitits

• RA= inflattmation/ auto immine/woman. Symt is inflmattion ,pannys, catrlid ge fibrosislos

Explore autosomal recessive inheritance patterns, including carrier status and probabilities of offspring being affected. Learn about genetic disorders like Cystic Fibrosis and Phenylketonuria (PKU), their diagnostic tests, and physiological effects. Includes discussion of apoptosis.