BIMM 100 Section 5

May 12, 2009 26

DAYS UNTIL
George Chen FINAL
gtchen@ucsd.edu
www.scribd.com/g_chen

Office Hours: Tu 12:30-1:30 Sierra Summit

 Midterm announcements
● Tests will be handed back in lecture tomorrow
● Regrade requests due in a week to Dr. Zhang
● Go over work with TAs in OH
● Preliminary Average = 70%
 Mitochondria: Background
● Main Function: Energy Production
● Has own genome
● Almost entirely coding region
● Circular, like bacteria
● Codes for rRNA, tRNA, proteins
 Mitochondria: Inheritance
● Maternal
● Use mutations to track
● 3 oldest lineages from
Africa
● Data consistant with fossil
findings
● 'Mitochondrial Eve'
 Sidenote: Paternal Inheritance
● 'Y Chromosome Adam'
● Also 3 lineages from Africa
 Mitochondria
● Codons 'wobble'
● Endosymbiont Theory
● Popularized by Lynn Margulis
● Explains bacterial characteristics
● Mitochondria can no longer survive outside cell
Genetic bottleneck

Heteroplasmy

Homoplasmy
 MERRF
● Rare
● Childhood onset
● Seizures
● Ataxia
● Myopathy
● Ragged Red Fibers
● 90% mutation makes symptoms obvious
● Interferes with aminoacylation, codon-anticodon
interaction
 MELAS
● Most common inherited
mitochondrial disease
● Strokes
● Ataxia
● Myopathy
● Lactic acidosis
● Potential to combine with
MERRF
 LHON
● Mitochondria disorder of eye
● Loss of central vision
● Fading of colors
● 5x more common in males than females
● 18 possible missense mutations
● Homoplasmy is common
 Kearns-Sayre
● Sporatic somatic deletion
● Heteroplasmic
● Occurs before age 20
● Systemic, but commonly eye related
 Treatments
● NOTHING EFFECTIVE!