Chapter 2- Cells Flashcards
Shared basic cellular functions
Growth
Response to stimuli
Energy use
Totipotent Stem Cells
Can become any cell type or entire organism
Pluripotent Stem Cells
Can become any cell type
Multipotent Stem Cells
Can become a few specific cell types
Interphase
Non-dividing stages in cell cycle
Gap 1, Synthesis, Gap 2
Mitosis
Division of nucleus and segregation of chromosomes
Prophase, Metaphase, Anaphase, Telophase, Cytokinesis
Prophase
DNA Coils and condenses
Spindles form
Metaphase
Chromosomes attach to spindles and align on the metaphase plate
Anaphase
Centromeres are pulled apart by spindles
Telophase
Spindles dissolve
Nucleoli reform
Cell elongates
Cytokinesis
Division and cleavage of the cytoplasm
Necrosis
Unorganized cell death
Apoptosis
Programmed cell death
Mediated by caspases that degrade DNA and enzymes to prepare for phagocytosis
Inborn Errors of metabolism
Carbohydrates: Galactosemia, fructosuria, Hereditary Fructose Intolerance
Protein: Maple Syrup Urine Disease
Lipids: MCAD
Galactosemia
Mutation in galactose 1-phosphate uridyl transferase
Cannot convert galactose to glucose
Galactose 1-phosphate accumulates in the liver
Treated by limiting galactose and lactose from diet
Fructosuria
Mutation in hepatic fructokinase
Fructose cannot be converted to fructose 1-phosphate
Fructose accumulates and is expelled in urine
Hereditary Fructose Intolerance (HFI)
Mutation in fructoaldolase
Fructose 1-phosphate cannot be utilized and accumulated in liver, kidneys, and intestines
Presents at 1-3 years old
Treated by reducing fructose from diet
Maple Syrup Urine Disease
Deficiency in BCKAD
Cannot break down leucine, isoleucine, or valine
Amino acids accumulate and damage nervous tissues
Treated by limiting BCAA from diet
MCAD
Mutation in medium chain Acyl-coenzyme A dehydrogenase
Cannot break down fatty acids through beta-oxidation
Triggered by periods of fasting
Treated by frequent, low fat meals
Peroxisome Functions
Synthesis of bile and plasmogens
Degradation of VLCFAs
Oxidation using hydrogen peroxide
Function in liver detoxification
Zellweger Spectrum Disorder (ZSD)
Reduction or absence of peroxisomes, empty vessels
Mutation in PEX peroxin gene responsible for importing enzymes
X-Linked Adrenoleukodystrophy
Mutation in ABCD1 gene
Accumulation of VLCFA disrupts adrenal cortex and myelin functions
Child cerebral form
Adrenomyeloneuropathy
Lysosome Functions
Catalyze breakdown of complex macromolecules
Become large and numerous during dysfunction
Gaucher Disease
Mutation in glucocerebrosidase (GBA)
Cannot break down glucocerebroside, accumulates
Gaucher Cell
Macrophage full of glucocerebroside-accumulated lysosomes
Interferes with function
Tay Sachs Disease
Mutation in HEX A Gene
Common in Ashkenazi Jews
Inability to degrade ganglioside GM2- Accumulates in CNS
Causes death within 2-4 years
Ciliopathies
Abnormally structured or functioning cilia
Wide-ranging disorders
Biedel-Bardet Syndrome
Multisystemic, congenital syndrome
Mutation in BBS genes
Renal and gonadal hypoplasia, polydactyl, vision loss, and intellectual impairment
Giant Axonal Neuropathy
Mutation in gigaxonin (GAN) Gene
Defects in intermediate fiber degradation
Neurons swell due to accumulation of neurofilaments
Progressive neurodegenerative disorder
Associated with red, kinky hair