Diseases 2 Flashcards
cholesterol uptake is disrupted; defect in gene for LDL receptor; atherosclerotic plaques due to high LDL
Familial Hypercholesterolemia
defects in assembly of peroxisome; 12 genes; usually death within first year of life
Zellweger Spectrum Disorders
NER (Nucleotide Excision Repair) deficiency; sensitivity to light, more likely to get melanomas and squamous cell carcinoma; cyclobutane dimers form in the DNA
Xeroderma Pigmentosum
inherited defects in one of the alleles of the MER (Mismatch Excision Repair) complex ; increased susceptibility to the cancers
Hereditary Nonpolyposis Colorectal Cancer
rare autosomal recessive; ERCC6 and ERCC8 involved in TCR (Transcription Coupled Repair); growth retardation, sensitivity to sunlight, skeletal abnormalities; dead by 20
Cockayne’s Syndrome
Double stranded repair problem; BRCA1 and BRCA2 are tumor suppressor genes; higher chance of all cancers especially breast
BRCA Genes
missense mutation; substitute Valine (GTG) for Glutamic Acid (GAG); alters HbA leading to rigid structure with poor O2 capacity
Sickle Cell Anemia
OOF deletion (frameshift) in dystrophin gene; little/no dystrophin protein; muscle wasting and death via respiratory failure
Severe Duchenne Muscular Dystrophy
In frame deletion (frameshift) in dystrophin gene; truncated dystrophin protein; muscle replaced with fat and fibroid, elevated creatine kinase (CK)
Becker Muscular Dystrophy
Lysosomal storage disease (severe); defective tagging of M6P so buildup in cytoplasm; failure to thrive and developmental delays (6 months)
I Cell Disease
Buildup of amyloid beta peptide (AB) plaques; Hyperphosphorylation of Tau (intracellular) both contribute
Alzheimer’s Disease (AD)
Aggregation of alpha synuclein (AS) protein forms insoluble Lewy bodies in dopaminergic neurons in the substantia nigra; leads to decreased dopamine available
Parkinson’s Disease (PD)
mutation in huntington gene leads to CAG triplet repeats; results in polyglutamine repeats and abnormal HTT protein; selective death of cells in basal ganglia
Huntington’s Disease (HD)
misfolding of prion proteins; transmissible and infects normal proteins; TSEs (spongiform)
Creutzfeldt-Jacob Syndrome (CJD)
AI disorder in which TSI binds and overstimulates TSH receptors leading to increased T3 and T4
Grave’s Disease
toxin binds alpha of Gs and activates continuously; adenylate cyclase on constantly making cAMP; Cl- channels open and diarrhea
Cholera Toxin
Toxin binds alpha of Gi and prevents activation; less inhibition of adenylate cyclase; too much cGMP and mucous in airway
Pertussis
(XO); short female, don’t ovulate (puberty); CV defects; normal intelligence (Non-disjunction)
Turner Syndrome
(XXY); primary hypogonadism (low T), undescended testicles, man boobs, tall, varying level of social abilities, infertile
Klinefelter Syndrome
trisomy 21; increased risk w/ maternal age; also robertsonian translocation or mosaic
Down’s Syndrome
trisomy 13; perinatal death within one week; severe abnormalities
Patau Syndrome
trisomy 18; abnormal development; most perinatal death in one year
Edward’s Syndrome
Paternal is deleted and maternal is imprinted; behavior problems, intellectual disabilities, obesity, and small feet
Prader-Willi Syndrome
Maternal is deleted and paternal is imprinted; severe developmental delays; happy demeanor
Angelman Syndrome
degeneration of retinal ganglion cells; acute or subacute loss of central vision; Mitochondrial disorder
Leber’s Hereditary Optic Neuropathy (LHON)
affects many body systems (brain, NS, muscles), stroke and dementia, lactic acidosis; mitochondrial disorder
Mitochondrial encephalopathy, lactic acidosis, and stroke like episodes (MELAS)
hypertrophy b/w stomach and duodenum; more common in males b/c lower threshold
Pyloric Stenosis
Variable expressivity; leads to tumors in brain and spinal cord; patients have pigmented spots on skin
Neurofibromatosis
Autosomal dominant; affects ankyrin complex; defective anchor points causing the membrane to detach and peel off
Hereditary Spherocytosis
Autosomal dominant; spectrin-spectrin lateral bonds and spectrin-ankyrin bonds are defective; membrane fails to rebound and progressively elongates
Hereditary Elliptocytosis
HbS at AA position 6 of Beta-globin (Glu->Val); hemoglobin polymerizes
Sickle Cell Anemia
Organ dysfunction due to iron overload (cirrhosis, arthritis, etc.; 60s); autosomal recessive; mutations in HFE gene; dysregulation of iron uptake and export
Hereditary Hemochromatosis
Lack of intrinsic factor; another megaloblastic macrocytic anemia
Pernicious Anemia
Hyberbilirubinemia; imbalance between production and excretion of bilirubin
Jaundice
Increased production of unconjugated BR; normal ALT and ASThemolytic anemias, hemorrhage; Glucose-6-Phosphate Deficiency
Pre-Hepatic Jaundice
Impaired hepatic uptake, conjugation, or secretion of conjugated BR; increases in unconjugated and conjugated BR, ALT, and AST; normal uribilinogen levels, conjugated BR in urine; liver cirrhosis, Gilbert and Criggler-Najjar syndromes
Intra-Hepatic Jaundice
Problem with BR excretion; obstruction, gall stones, drugs; elevated conjugated BR, normal AST and ALT, Conjugated BR in urine (dark); no urobilin or stercobilin in feces and urine
Post-Hepatic Jaundice
elevation of unconjugated bilirubin (physiological); immature hepatic metabolic pathways; deficiency of UDP-GT enzyme; breakdown of HbF
Neonatal Jaundice; treat with phototherapy
deficiency of UDP-GT; type 1 is complete absence of gene; BR accumulates in brains of babies (encephalopathy); benign due to mutation in UDP-GT gene
Criggler-Najjar Syndrome
Common, benign, reduced activity of UDP-GT (25%)
Gilbert Syndrome
Inflammation of liver, increased unconjugated and conjugated, accumulation of BR in skin and sclera
Hepatitis
Too many RBCs made; 3 types
Polycythemia
Bone marrow is normal, but is responding to low O2 levels
Secondary Polycythemia
Normal bone marrow; resulting from altitude changes; lung and heart disease
Physiologic Polycythemia
Bone marrow is making RBCs inappropriately
Polycythemia Vera (Primary)
Large amounts of ferric iron (Fe3+) in the heme; cannot bind oxygen so behaves like anemia; the other chains have increased affinity for O2 and will not release it
Methemeglobinemia
