Mitochondrial Disorder
Medical Genetics
1894,found in animal cell
1897,mitochondrion
1894,found in animal cell
1897,mitochondrion
1963,mtDNA
1894,found in animal cell
Structure of mtDNA
Anderson &
Cambridge sequence
1,Semi-independent
Complex Subunits Nuclear mtDNA
Ⅰ 41 34 7
Ⅱ 4 4 0
Ⅲ 11 10 1
Ⅳ 13 10 3
Ⅴ 14 12 2
83 70 13
Genetic Characteristics
1,Semi-independent
2,Non-universality of the genetic code
Genetic Characteristics
MetIleAUA
MetMetAUG
StopArgAGA
StopArgAGG
TrpStopUGA
TrpTrpUGG
mtDNAUniversal codeCodon
Variations in the Genetic Code
1,Semi-independent
2,Non-universality of the genetic code
3,Matrilineal inheritance
Genetic Characteristics
Matrilineal Inheritance
Heteroplasmy
Homoplasmy
4,Replicative segregation
1,Semi-independent
2,Non-universality of the genetic code
3,Matrilineal inheritance
Genetic Characteristics
Replicative Segregation
4,Replicative segregation
1,Semi-independent
2,Non-universality of the genetic code
3,Matrilineal inheritance
5,Threshold value
6,High mutation rate
Genetic Characteristics
Matrilineal inheritance
Degenerative diseases
Aging
mtDNA Mutation & Disease
1,Missense mutation
mtDNA Mutation & Disease
Leber’s hereditary optic neuropathy (LHON)
LHON
LHON (MIM 535000)
The matrilineal inheritance disease
Wallace mutation
11778G→A
11778 G→A
ND4,Arg 340 His
LHON
MERRF syndrome (MIM 545000)
2,Protein synthesis mutation—— tRNA
mtDNA Mutation & Disease
1,Missense mutation
MERRF Syndrome
8344bp tRNALys
8344 bp
MTTK*MERRF8344G
3,Insertion OR deletion mutation
Parkinson syndrome (MIM 556500)
mtDNA Mutation & Disease
2,Protein synthesis mutation—— tRNA
1,Missense mutation
Parkinson Disease(PD)
4977 bp deletion
in brain cell
4,Reduction of mtDNA copy number
mtDNA Mutation & Disease
3,Insertion OR deletion mutation
2,Protein synthesis mutation—— tRNA
1,Missense mutation
Aging