Mitochondria

Question 1

What are the process in apoptosis of mitochondria ?

Answer 1

Stress releases BAX and CYTOCHROME C
Cyto c binds to APAF-1
OLIGOMERISES TO APAPTOSOMES
Activates procaspase 9
Active caspase 9

Question 2

What is the disorder from failure to release cardiolipin ?

Answer 2

Barth syndrome

Question 3

What is the polymerase and helicase of mitochondria ?

Answer 3

DNA POLYMERASE GAMA (POLG)
Helicass = TWNK

Question 4

What is inhibited by AZT DRUG ?

Answer 4

Only polymerase gamma (mitochondria)
Not polymerase delta (eukaryotic rna)

Question 5

What are the two theories related to mitochondrial inheritance ?

Answer 5

Genetic bottle neck
Threshold theory

Question 6

AD or mitochondrial Disease
Causing Ragged red fibres
BILATERAL PTOSIS
EXERCISE INTOLERANCE

Answer 6

PEO
Mutation in POLG or twnk (large deletion)

Question 7

Mitochondrial Disease causing

Ragged red fibres
PEO
RETINOPATHY
HEART BLOCK
NO BONE MARROW INVOLVED

Answer 7

KSS
DELETION IN MUSCLE TISSUE
NO BONE MARROW INVOLVED

Question 8

Mitochondrial Disease causing
RAGGED RED MUSCLE FIBRES
EARLY ONSET
PANCYTOPENIA
Death before 4 years ?

Answer 8

PS
BONE MARROW INVOLVED

Question 9

Mitochondrial Disease causing
stroke
Short stature
Diabetes
Hearing loss

Answer 9

MELAS
Mutated TRNA leucine

Question 10

Mitochondrial Disease causing
Epilepsy
Seizures

Answer 10

MERF
MUTATED TRNA LYSINE

Question 11

Mitochondrial Disease
Mutation in COMPLEX 1
CENTRAL VISUAL FAILURE
ONLY OPTIC NERVE AFFECTED

Answer 11

LHON

Question 12

Mitochondrial Disease

Missense mutation of Atpase of complex 5
Late childhood onset
ATAXIA
PIGMENTATED RITONOPATHY

Answer 12

NARP

Question 13

Mitochondrial or AR
NEUROLOGICAL, RESP AND CARDIAC DEGENERATION
MITOCHONDRIAL ENERGY GENE MUTATION

Answer 13

LEIGHS SYNDROME

Question 14

AZT DRUG CAUSES ?

Answer 14

ACQUIRED MITOCHONDRIAL MYOPATHY
MUSCLE WEAKNESS
ATAXIA
SEIZURES
EXERCISE INTOLERANCE