Renal Physiology Flashcards
What causes Fabry disease?
Deficiency in α-galactosidase
Fabry disease is a type of lysosomal storage disease.
What is the primary treatment for Gaucher disease?
Enzyme replacement therapy / bone marrow transplantation / stem cell transplantation
Gaucher disease results from a deficiency in β-galactocerebrosidase.
What enzyme is lost in Tay-Sachs disease?
Hexosaminidase A
Tay-Sachs disease is another lysosomal storage disease.
What is the function of the Golgi apparatus?
Modification, packaging, and transport of proteins
The Golgi apparatus processes substances received from the ER.
What are the two subunits of ribosomes?
Large subunit (60S) and small subunit (40S)
Ribosomes are essential for protein synthesis.
What do gap junctions allow?
Chemical substances to pass between cells
Gap junctions are crucial for intercellular communication.
What proteins are associated with focal adhesions?
Actin filaments
Focal adhesions play an important role in cell movement.
What are hemidesmosomes?
Half-desmosomes that attach cells to the basal lamina
Hemidesmosomes connect intracellularly to intermediate filaments.
What proteins are involved in desmosomes?
Cadherins
Desmosomes prevent tissues from fraying.
What characterizes the Rough Endoplasmic Reticulum (RER)?
Studded with ribosomes
RER is involved in protein synthesis and intracellular transportation.
What is the function of the Smooth Endoplasmic Reticulum (SER)?
Lipid & cholesterol synthesis, stores calcium, detoxification
SER lacks ribosomes.
What does the cytoplasm contain?
Water, enzymes, nutrients, wastes, and gases
The cytoplasm is the site of most cellular metabolic reactions.
What is the composition of the cell membrane?
Proteins, phospholipids, cholesterol, other lipids, carbohydrates
The membrane is semipermeable and about 7.5 to 10 nanometers thick.
What is the Fluid Mosaic Model?
A model describing the cell membrane structure
It consists of a bilayer of phospholipids with proteins dispersed within.
What are integral proteins?
Channels, pores, carrier proteins, enzymes, receptors
Integral proteins are embedded in the cell membrane.
What is the role of cholesterol in the cell membrane?
Determines permeability of the bilayer
Cholesterol helps maintain membrane fluidity.
What are tight junctions?
Impermeable junctions that prevent leakage
Found in intestinal mucosa and blood-brain barrier.
What is the primary function of mitochondria?
Site of cellular respiration where ATP is produced
Mitochondria have their own DNA and are thought to have originated from aerobic bacteria.