Test 1 Flashcards
What mutation causes progeria?
Mutation in Lamin A of the nucleus.
Creates splice and results in truncates protein progerin.
Which organelle provides ATP and machinery for oxidative phosphorylation?
Mitochondria
Glycolipids have an important role in __________.
Cell recognition
Which lipid strengthens the plasma membrane and fills in the spaces between phospholipids?
Cholesterol
What are the concentrations of K, Cl, and Na inside the cell? (High or low)
K high inside the cell, Na and Cl low inside the cell
Which organelle is filled with digestive enzymes (hydrolases) and breaks down macromolecules?
Lysosomes
Describe Tay Sach’s disease
Deficiency in Hex A enzyme that normally breaks down ganglioside in the brain. Deficiency causes and accumulation and neuron cell death. Common clinical finding is the cherry red spot on retina.
Describe hurler syndrome
Defect in the lysosome enzyme a-L-idurinidase that breaks down glycosaminoglycans (GAGs). Accumulation of GAGs occurs and can cause skeletal abnormalities and mental deficiencies.
Organelle that breaks down long chain fatty acids by beta oxidation
Peroxisome
Describe Zellweger syndrome
Peroxisomal disorder causing impaired brain development, liver and kidney lesions. Accumulation of long chain fatty acids in blood.
Major site of synthesis of new membrane in cell
Smooth ER
Large area association with ribosomes, site where secretory proteins are made
Rough ER
Describe I-cell disease
Caused by deficiency in phosphorylating enzyme normally in Golgi apparatus. Lysosomal enzymes from RER are not phosphorylated in golgi and are released into the cell instead of to lysosomes. Lysosomes cannot function without the enzymes, and un-degraded proteins accumulate.
Difference between nucleotide and nucleoside
Nucleoside does not have phosphate group
Nucleoside analog of thymidine (analog of pyramidine) that is effective in treating retro viral infections because viral reverse transcriptase uses _____ over thymidine
AZT