Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key


Play button


Play button




Click to flip

24 Cards in this Set

  • Front
  • Back
general features
patterns and peculiarities of inheritance
types of mutations
collaboration to Nuclear DNA
mito disorders
functional siginificance of mito
main function of mito
Ox Phos
metabolite syn: heme, sterols, aa
Ca homeostasis
sensor of death sig
Mito role in apop
stimuli (ca?) causes formation of pores and release of cyto c (activates caspases which dismantle the protein cellular network), AIF(apop inducing factor), endonuclease G, Smac aka DIABLO (proapoptotic protein)
mito DNA
copies of DNA
number of genes
non-coding region
polyplasmy - 2-10 copies in each mito
maternal inheritance
37 genes (13 respiratory chain, 2 RNA's and 22 tRNA)
transcription and regulation controlled by nuclear proteins
D loop only non-coding region;origin of dna rep
mtDNA vs Nuclear DNA
introns and exons
intergenic space
UAA insertion
mutation rate
repair mech
no introns
coding sequences are contiguos or sep'd by only 1-2 bp
codon usage difference
start stop R W and I codons diff
insertion of UAA at the TRANSCRIPTIONAL level
mutation rate 10 to 100X more
dna repair is lacking
how can you distinguish mito inheritance vs x-linked?
males cannot transmit the defect
ratio of defective/normal mtDNA
in ova, will affect inheritance, severity and onset
mixture of normal and mutated DNA
heteroplasmy and threshold
mutant mtDNA's must be above a certain threshold to produce clinical manifestations
what causes variation in percent mutant mtDNA needed to cause cell dysfunction?
tissue ox phos requirements
what tissues do mito diseases hit heaviest
heart brain muscle
anything with high enerygy consumption
mitotic segregation
mutant mtDNA can segregate unequally upon mitosis and cause crossing of threshold
skewed heteroplasmy
threshold surpassed in 1 tissue
how many nuclear proteins need to be importend from the cytosol to a mito
at least 1000
mito targeting signals
recognized by TIM and TOM, n-terminal sequence and amphipathic alpha helix/ chaperone proteins
when to suspect mitochondrial dysfunction
when a common diseasea has atypical features
three or more organs involved
setbacks or flare ups in chronic disease occurs w/infections
stands for
leber hereditary optic neuropathy
midlife central vision loss

variable penetrance
heteroplasmy may determine severity
ND6 mutation, ala to val in NADH dehydrogenase
low percentage mtDNA mutant = LHONS
higher = LDTY
Protein synthesis mutations
rRNA of tRNA mutations
base substitutions
two diseases caused by tRNA mutations
MELAS(mito encephalomyopathy, lactic acidosis, and stroke-like episodes) and MERRF(myoclonic epiliepsy and ragged red fiber)
two deletion and rearrangement diseases
CPEO[chronic progressive external opthalmoplegia, shows decreased COX stain] and KSS [kearns-sayre syndrome](5kb deletion)
somatic mutations
oxphos activity declines with age in brain muscles liver
increase in COXnegative fibers
how many hits/cell/day of redox damage
10,000 hits per cell a day
7X10^12 hits/sec
AZT therapy and mitochondria
muscle signs
high levels of serum_____
70-80% depletion
myopathy with increased drug dose
muscle signs: proximal weakness, myalgia, wasting
high serum creatine
improvement with cessation after 3-4 months
myopathology associated with AZT
mito prolif: succinate deH and fibers
fiber size variability