Organelles and Cytoplasmic Inclusions: Functions and Pathologies Flashcards
Storage and use of genome
Inherited genetic diseases; environmentally induced mutations
Nucleus
Ion and nutrient transport
Recognition of environmental signal
Cell-to-cell and cell-to-extracellular matrix adhesions
Cystic fibrosis
Intestinal malabsorption syndromes
Lactose intolerance
Plasma Membrane
Binds ribosomes engaged in translating mRNA for proteins destined for secretion or for membrane insertion
Also involved in chemical modifications of proteins and membrane lipid synthesis
Pseudoachondroplasia
Calcium phosphate dihydrate crystal deposition
disease
Rough Endoplasmic Reticulum
Involved in lipid and steroid metabolism
Hepatic endoplasmic reticular storage disease
Smooth Endoplasmic Reticulum
Chemical modification of proteins
Sorting and packaging of molecules for secretion or transport to other organelles
I-cell disease
Polycystic kidney disease
Golgi apparatus
Transport and storage of secreted proteins to plasma membrane
Lewy bodies of Parkinson’s disease
Proinsulin diabetes
Secretory Vesicles
Aerobic energy supply (oxidative phosphorylation, ATP)
Initiation of apoptosis
Mitochondrial myopathies such as MERRFa,
MELASb, Kearns-Sayre syndromes, and
Leber’s hereditary optic atrophy
Mitochondria
Transport of endocytosed material
Biogenesis of lysosomes
M-6-P receptor deficiency
Endosomes
Digestion of macromolecules
Lysosomal storage diseases
Lysosomes
Oxidative digestion (e.g., fatty acids)
Zellweger’s syndrome
Peroxisomes
Various functions, including cell motility, cell
adhesions, intracellular and extracellular transport
Maintenance of cellular skeleton
Immotile cilia syndrome, Alzheimer’s disease,
epidermolysis bullosa
Cytoskeletal elements
Synthesis of protein by translating protein-coding sequence from mRNA
Ribosomal dysfunction in Alzheimer’s disease;
Diamond-Blackfan anemia
Many antibiotics act selectively on bacterial
ribosomes: e.g., tetracyclines, aminoglycosides
(gentamicin, streptomycin)
Ribosomes
Degradation of unnecessary and damaged proteins that are labeled for destruction with ubiquitin
Diseases characterized by cytoplasmic accumulation of misfolded proteins: Parkinson’s disease, Alzheimer’s disease, Angelman syndrome, inclusion body myopathies
Proteasomes
Short-term storage of glucose in the form of branched polymer
Found in liver, skeletal muscle, and adipose tissue
Several known glycogen-storage diseases,
including major groups of hepatic-hypoglycemic and muscle-energy pathophysiologies
Glycogen
Storage of esterified forms of fatty acids as highenergy storage molecules
Lipid storage diseases such as Gaucher’s and
Niemann-Pick disease, liver cirrhosis
Lipid droplets
