Organelles Flashcards
1
Q
Glycocalyx (Glycolipids & Glycoproteins) & CARBS can be found in
A
OUTER leaflet ONLY
2
Q
What absorbs stain?
A
THICK CELL WALL on G+ PROK = purple
3
Q
Which has cell wall and cell membrane? Prok or Euk
A
Prok
4
Q
components of cell mem
A
lipids (phospholipids, glycolipids, cholesterol) &
proteins (transmembrane/integral and peripheral)
5
Q
fn of mem proteins
A
RECEPTORS, tx, channels, & communication
6
Q
phosphatidylcholine = __ (tails)
A
1 sat & 1 UNSAT tail (kink)
7
Q
factors that INCREASE FLUIDITY
A
1) temperature
2) shorter chain
3) # on UNSAT fa tails
8
Q
FA’s form what shape when put together
A
MICELLES
9
Q
Phospholipids form what shape & whats holds together leaflets
A
BILAYER (VAN DER WAALS hold together leaflets)
10
Q
what is the opposite of fluidity? Fluidity = easier to break
A
STABILITY
11
Q
FLUIDITY imp 4
A
exocytosis
endocytosis
trafficking
12
Q
phosphatidyl-serine can be found on outer or inner leaflet?
A
INNER
13
Q
What INCREASES STABILITY of mem
A
CHOLESTEROL
14
Q
FN of CHOLESTEROL on mem
A
INCREASES STABILITY
FILLS IN gaps when lipid = TOO FLUID
15
Q
why do ACANTHOCYTES occur?
aka spur cells
A
= RBCs with TOO MUCH CHOLESTEROL
16
Q
SPUR CELL ANEMIA / ACANTHOCYTOSIS
A
chronic alcoholics
hyperlipidemia
^^ reticulocytes
SYMP: portal HTN (caput medusae, jaundice) & asterixis (liver flap)
17
Q
what is elevated in LIPID RAFTS
A
CHOLESTEROL & GLYCOPHINGOLIPIDS (less fluid)
stick out of mem
18
Q
Glycosylphosphatidylinositol (GPI )is an example of ___
A
LIPID RAFT / glycolipid attaches 2 PM
19
Q
what does FLIPPASE do and what energy source does it use?
A
flips phospholipids and uses NRG from HYDROLYSIS
20
Q
in APOPTOSIS, what flips to make this occur?
A
PHOSPHATIDYL SERINE flipped 2 OUTER leaflet
21
Q
GLYCOLIPID fn
A
cell 2 cell recog
protection
NERVE CONDUCTION
on OUTER leaflet only
22
Q
lipid anchor / Peripheral protein fn
A
SIGNALING and ADHESION
can be on either side
23
Q
What does GPI do?
A
LINK protein 2 outer leaflet
24
Q
What are 2 methods of linking proteins to the INNER leaflet?
A
Fatty Acetylation and Prenylation
25
what reinforces the structure of RBCs?
SPECTRIN
26
what does SPECTRIN bind 2 on the inside of RBC?
Protein 4.1 and F-Actin
27
what binds band 3 to spectrin?
ANKYRIN
28
role of PRTEIN 4.1
link ACTIN - GLYCOPHORIN
29
HEREDITARY SPHEROCYTOSIS
SPECTRIN/ ANKYRIN/ P4.1 MUTATION
= loss of biconcave mem on RBC
symp= hemolytics anemia, splenomegaly, jaundine, gall stones
will lose parts of mem in every diapedesis
30
fn of CARBS on MEM
primary MARKER 4 cell recog
| ex: L-selectin recog's ADDRESIN
31
nucleus FN
compartmentalize.
| PREVENT PREMATURE TL of pre-mRNA
32
what occurs at the nucleolus
rRNA synth and ribosome assembly
33
what do NPCs import?
snoRNP, snRNPs, & proteins (histones, polymerases & TFs)
34
what do NPCs export?
mRNA, tRNA & ribosomes
35
where is GAP located? GEF?
GAP in CYTOSOL
| GEF in NUC
36
what is needed to import cargo?
- NLS = nuclear localization signal
- IMPORTIN
GTP to UNBIND CARGO after imported to nuc
37
steps of importing cargo
```
RAN-GDP binds 2 IMPORTIN
importin picks up cargo with NLS
move to nuc thru NPC
RAN-GEF bind 2 RAN-GTP
cargo UNBINDS
```
38
steps of exporting cargo
RAN-GTP binds 2 EXPORTIN
CARGO with NES binds to exportin
exportin+cargo moves to cyto
RAN-GAP causes GTP to HYDROLYZE = detatch cargo
39
what role does RAN-GAP have in exporting cargo?
GAP HYDROLYZES the gtp so the cargo can DETATCH
40
what does GTP do to importin and exportin
```
Importin = allows cargo to detatch
Exportin = needed to PICK UP cargo
```
41
which lamin has its own gene?
Lamin B
42
what do lamins A&C form?
heterodimers
43
what is the role of EMERIN?
emerin binds to lamin which attaches to chromatin
44
what process degrades the PM 4 mitosis? then what happens to lamins?
PHOSPHORYLATION of Lamins!
Lamins A and C released as FREE DIMERS
Lamin B ANCHORED 2 inner mem!
45
Emery- dreyfus muscular dystrophy
rigid ELBOW, ANKLES and NECK
| mutation in EMERIN or LAMIN A/C
46
dilated cardiomyopathy
LAMIN A/C defect = fragile nuc lamina
47
lipodystrophy
LAMIN A/C defect
| ^^ adipose in FACE & NECK. BODY= lean
48
what does Lamin A bind to?
architectural partners
chromatin
gene-regulating partners
signalling partner
49
HUTINCHIN GILFORD PROGERIA
ALTERED LAMIN A = unstable ncuclear envelope
= FORMS BLEBS & NPC CLUSTER
premature death of cells, accelerated againg
allopecia, prominent eyes, arteriosclerossi
50
snoRNPs
NUCLEOLUS
51
snRNPs
SPECKLES
52
```
These symptoms are caused by what?
Kyphoscoliosis
Pectus carinatum
Normal iq
Cardiomegaly
```
Defective DEGENERATION OF KERATAN SULFATE
= MORQUIO SYNDROME
53
What are these symptoms caused by?
Recurrent infections
Hypopigmentation
Mild coag defects
DELAYED FUSION of phagosome with lysosome in leukocytes
-or-
DEFECT IN MICROTUBULE POLYMERISATION
MUTATION CHS1/LYST
This is Chediak-Higashi Syn
54
What cuases these syndromes and what is the name of the condition?
Progressive leukodystrophy in CNS & PNS
Paralysis
Cognitive decline
Progressive loss of muscle tone
↓ ARSA
ACCUMULATION OF SULFATIDES b'c can't degrade
DESTROYS MYELIN
= Metachromatic Leukodystrophy
55
What causes these symptoms? And what is the name of the condition?
Aggressive behavior
Hyperactivity
Defect in HEPARAN SULFATE DEGRADATION
= sanfilippo syndrome
56
Differences between mucopolysaccharidoses diz's: hunter and hurler
- deficiency in what?
- symptoms
- inheritance
Hunter = need to hunt and aim for the x. So x- linked. And NO CORNEAL CLOUDING. Later onset and live longer
↓ in IDURONODATE SULPHATASE\
HURLER = ↓ alpha- L-IDURONODASE
CORNEAL CLOUDING. Retard. Hepatosplenomegaly, coarse face, hirsutism (abnormal hair growth)
57
What is the most severe form of mucopolysaccharidoses?
HURLER
58
What causes the following syndromes? Name of condition?
Psychomotor retardatioon
Big liver, spleen & heart valves
Chf or resp tract infection
↓ N-acetylglucosamine phosphotransferase → = no M6P tag
COMPLETELY EMPTY LYSOSOMES → accumulation of inclusion bodies
59
What Is the E that puts on the M6P tag? And where does it put the tag on?
e = N- acetylglucosamine phosphotransferase / GlcNAc
Does this at the cis-golgi
60
What does the V-type ATPase do?
Pumps H+ into lysosome to MAINTAIN ACIDITY
61
What protects the lysosome from digestion?
Lysosome is HEAVILY GLYCOSYLATED which prevents it from being digested
62
What does a MONOUBIQUITIN TAG do?
Makes protein go to MULTIVESICULAR BODY
Does this to DOWNREGULATE RECEPTORS
63
What is the purpose of a monoubiquitin tag?
To DOWN REGULATE RECEPTORS
64
what would you find in the DENSE FIBRILLAR CENTER of the nucleolus?
rRNA that is being TC'd -> cleaved and MODIFIED by snoRNPs
65
what would you find in the FIBRILLAR CENTER of the nucleolus?
transcriptionally INACTIVE Dna & pre-rRNA GENES
66
steps involved in co-TL translocation
1) protein needs ER sig sequence
2) SRP (signal recog particle) binds to the ERss and takes the ribosome with protien to the SRP-R on the translocon
3) protein goes into ER and SRP dissociates
67
what does BiP do?
= CHAPERONE
| binds to protein and PULLS IT INTO ER
68
what is unique about using a INTERNAL sig seq?
1) can bing to translocon in 2 orientations
| 2) sig seq NOT CLEAVED
69
list rER resident proteins
DISULFIDE ISOMERASE (makes s-s bond on cysteins)
BiP
Calnexin
Calreticulin
last 3 = chaperones...last chance to fold correctly before DEGRADATION
70
where does the protein get polyubiquinated 4 degradation
in rER
71
what is N-LINKED GLYCOSYLATION
| and what is the purpose?
adding a premade oligosacc to a protein so it can fold properly. protein sits on DOLICHOL (mem-bound lipid) until the protein thru translocon has an ASPARAGINE
THEN oligosaccharide tx to protein
THEN processed and LAST 4 sugars TRIMMED (3 glucose and 1 mannose)
PURPOSE = imp 4 correct FOLDING, TX & FN
72
what is the signal that is needed for n-LINKED GLYCOSYLATION?
ASAPARAGINE in the protein
73
Pt presents with rales, rhonchi, clubbed fingers and has had pneumonia multiple times, longer lung field
what is the mutation in? and what happens in this disease?
mutation in CFTR ... deletion in F508 -> IMPROPER FOLDING
74
what is the deficit in familial HYPERcholesterolemia
DEFECTIVE tx of LDL-R form ER --> Golgi.
so not sent up to the PM
it will not be able to RECOG LDL and bring it into lysosome to break it down to free cholesterol --> HIGH LDL if can't break it down.
75
what is the function of COP protein?
to DEFORM THE MEMBRANE so it can do FUSION
76
COPI fn
take vesicle from golgi --> ER
77
COPII fn
coat vesicles going from ER -> golgi
78
Target signal KDEL, takes protein from nucleus to _____
ER
79
Target signal KKXX, takes protein from nucleus to _____
ER
80
Target signal M6P, takes protein from golgi to _____
LYSOSOME
81
without an ER SIG SEQ, the protein will go where by default?
CYTOSOL
82
Target signal NLS, takes protein to _____
NUCLEUS
83
Target signal SKL, takes protein to _____
PEROXISOME
84
in order for vesicle to FUSE with membrane, they need what signals??? what else is needed with the signals 2 complete fusion
SAR or ARF (G-proteins)
| & they need GTP
85
what is needed for GDP to turn into GTP for SAR/ARF to use them?
GEF & GTP causes G-protein to flip into membrane
86
lists steps in VESICLE DOCKING
1) RAB-GTP allows 4 initial rxn in docking
2) RAB intereacts with Rab BINDING P -> docks & brings vesicle closer
3) V SNARE & T SNARE bind
4) both mem's pulled close 2 each other
5) NSF/SNAPs untangle snares & v-snare gets recycled
87
what puts on the m6p tag?
n-acetyl glucosamine phophotransferase
88
a lack of GlcNAc (aka n-acetyl glucosamine phophotransferase) leads to what?
i-cell diz
= COMPLETELY EMPTY LYSOSOMES
accumulation of waste products
=coarse facial features, mental and growth retardation
89
what is the main difference btw a vesicle that is new and one that is CLOSE TO PM?
CLOSE TO PM/OLDER = MORE ACIDIC & SMALLER
90
what does acidity help with?
1) RECYCLING of R's back TO GOLGI
| 2) PROCESSING of proteins
91
what is another name for v-snare and what mem is this snare on?
synaptobreVin
v = snare on the Vesicle membrane
92
t-snare aka
SYNTAXIN
93
what is inhibited in BOTULISM?
INHIB of ACh (Excitatory Neurotransmitter)
| = FLACCID PARALYSIS
94
what is inhibited in TETANUS?
inhib GAB which is an INHIBITORY neuroT thus...
SPASTIC PARALYSIS b/c muscs can't be inhibited
CLEAVE SYNAPTOBREVIN
95
which SNARE is cleaved in Tetanum & Botulism??
synaptobrevin (v-snare)
96
what are the 3 methods of ENDOcytosis and what is unique about them?
1) Pinocytosis -- no coat needed
2) Phaogcytosis - REQUIRE R. done by macrophages, DCs... & clathirin INDEPENDENT?
3) R-mediated endocytosis -
97
what form(s) of endocytosis do NOT need clathirin
pino & phagocytosis
98
What forms of endocytosis do not need CLATHIRIN?
PHAGO & PINO
99
What form of endocytosis is used for defense against infection?
PHAGO
100
Receptor triggered forms of endocytosis =?
And what is the major difference between them?
PHAGO & R-mediated endo
Phago = CLATHIRIN INDEPENDENT
101
Phagosome + lysosome = ____
Phagolysosome
102
In what path/process is R-mediated endo WITH CLATHIRIN used for?
Tx TRANS-golgi → LYSOSOME 4 degradation
Will have the M6P tag on it (which was done in the cis-golgi)
103
In R-med endocytosis,
Where will these receptors cluster around?
What happens after R is bound?
Accumulate in LIPID RAFTS
CLATHRIN binds to receptors
104
Steps of R-med Endocytosis
1) Ligand bind 2 receptor @ LIPID RAFT
2) ADAPTIN binds R → RECRUITS CLATHRIN
3) clathrin cause MEM 2 DEFORM
4) DYNAMIN SQUEEZES together
5) clath disassembles
6) RAB-GTP interact RAB-bind P
7) Ves docks when SNARES wind together
8) CIS-SNARE cmplx UNWINDS snares 4 recylcing
105
What allows the mem R to RELEASE CARGO & get RECYCLED
↓ pH in ENDOSOME
106
What is the FIRST thing that the ves ALWAYS fuses with after ENDOytosis?
EARLY ENDOSOME
107
What is the defect in class IV familial hypercholesterolemia?
What does this defect lead to?
LDL-R Unable to CLUSTER
no cluster = no endo = no break↓ of LDL
= ↑ plasma cholesterol & ↑ LDL synth
108
What kind of environment is necessary for proper function of the lysosome?
ONLY WORKS @ pH 4.5-5
109
What is the difference between primary & secondary lysosomes?
```
Primary = NO EXPOSURE to material
Secondary = EXPOSED & broke down material already
```
110
A vesicle from the early endosome can go to 2 spots next. What are those two spots?
1) LATE endosome → Lysosome
OR
2) GOLGI → ER
111
A protein with M6P tag from the cis-Golgi will take what route next?
Trans-Golgi → early endosome → late endosome → LYSOSOME
112
Steps in creating golgi -> lysosome vesicle
1) cargo R's bind 2 cargo P's
2) ADAPTINS LINK R's to CLATHRIN
3) DYNAMIN pinches off vesicle
4) coating P's break↓ which EXPOSES SNARES
5) SNARES help with DOCKING
113
T/F Coat proteins are involved in trans-golgi → PM
FALSE
114
What DISSOCIATES CARGO from R?
ACID / ↓ pH
115
What maintains ↓ pH in lysosome?
V-Type ATPase
116
What protects lysosome from digestion from ↓ pH?
Mem is HEAVILY GLYCOSYLATED
117
What does a protein need to join multivesicular body?
MONOUBIQUITIN TAG
118
What is the purpose of multivesicular bodies?
↓ REG of R's
119
I-Cell diz keywords:
- EMPTY LYSOSOMES
- ↓ ↓ N-acetylglucosamine phosphotransferase = NO M6P tag
Coarse face, PSYCHOMOTOR RETARD, enlarged liver, ehart
120
Hurler deficiency
Alpha-L IDURONIDASE
121
Hunter deficiency
Iduronodate sulphatase
Mn: IS → they hunt for people
122
Mutation in Chediak-Higashi syn
CHS1/LYST mut → delayed fusion of phagosome with lysosome in LEUKOCYTES
123
Deficiency in METACHROMATIC LEUKODYSTROPHY
↓ ARSA
= accum SULFATIDES in cells (toxic to NS) → DESTROY MYELIN
= progressive leukodystrophy in CNS & PNS
Progressive loss of muscle
124
What is the function of peroxisomes??
Make H2O2 → 4 oxidation
| Have CATALASE → destroy XS h2o2 & free radicals
125
Peroxisomal P's made in cytosol need what to move INTO peroxisome?
SKL import signal binds to PTS1R →
SKL = PTS1R bind PEX (peroxin translocators)
-Need ATP then you an import P
FULLY FOLDED P's enter
126
PEROXISOMES make PLASMALOGEN. What it this important for?
Needed 4 MYELINATION
127
What do peroxisomes break down?
VLCFAs (by beta-oxidation)
H2O2
Purines
128
Where are VLCFAs broken ↓ ?
Starts Break ↓ in PEROX
Finish in MITO
Can ONLY be broken down in perox
Break↓ of FA= MAJOR nrg source
129
Peroxisomes break ↓ purines.. what is the product?
Purine break ↓ into uric acid (XANTHINE OXIDASE)
130
Why does gout occur??
What is the treament and what does. That do?
↑ ↑ uric acid → accum of URATE CRYSTALS
Treat with ALLOPURINOL =. Xanthine oxidase inhibitor
131
2 disorders of peroxisome
Zellwegers
X-linked adrenoleukodystrophy
132
```
Name the disease:
EMPTY PEROXISOMES (b/c don't recog SKL)
VCLFA accumulation (→ ↑ ↑ toxic glial cells)
```
↓ ↓ PLASMALOGENS
& what are symptoms?
Zellwegers
Prominent FOREHEAD, WIDE Eyes (hypertelorism)
133
What are symptoms and dix name?
```
DEFECT IN TX OF VLCFAs into perox =
no break ↓
= accum in:
1) Brain → accum of toxic glial → myelin breakdown
2) ADRENAL CORTEX → adrenal atrophy
```
x-linked adrenoleukodystrophy
Symp = VISION LOSS, spasticity, ataxia, apathy
LATER ONSET
PROGRESSIVE
134
Where is CARDIOLIPIN made and what does it do?
Made in MITO OUTER mem
INSERTED and fn in inner mem
Fn = contributes to PERMEABILITY of inner mem (2 small molecules)
135
ATP synthase is in the INNER mem but ATP is made in ___?
MATRIX
136
What is the inner mem of the mito IMPERMEABLE TO?
MOST MOLECULES & IONS
137
T/F Majority of proteins that fn inside the mito are ENCODED in the mito
FALSE
...in the NUCLEAR GENOME
138
Cardiolipin
How many FA tails?
Where is it made?
Where is it inserted and where does it fn?
4 FA tails
Made in OUTER mem
Inserted & fns in INNER mem
139
↓ ↓ cardiolipin leads to
What is the name of this condition?
Cardiac failure (↑ mortality in infants)
General musc weakness
Neutropenia
BARTHS syndrome
140
What happens in uncoupling? And why?
What causes this?
Inner mem permeable so the protons pumped out by ETC can leak back thru and H+ coming back INTO matrix GENERATES HEAT
THERMOGENIN allows uncoupling/leaking
141
Difference btw intrinsic and extrinsic paths of APOPTOSIS
Intrinsic = involves MITO & cytochrome C , BAD/BAX→ caspase 9 → ...
Extrinsic = caspase EIGHT → ...
Both then → caspase 3/7 → apop
142
Steps of importing P → mito
1) P bind HSP70 (prev early folding)
2) HSP70 bind TOM
3) TOM recog mito sig seq
4) HSP70 move thru TIM (pulls into matrix)
5) Matrix protease trims sig seq
6) P binds HSP60 (4 proper fold)
P → HSP70 → TOM → TIM → HSP60
143
What does HSP70 do
PREVENTS EARLY FOLDING of p
144
In MITO P import, what RECOG's MITO SIG SEQ?
TOM
145
What COUPLES oxidation with phosphorylation in mito?
ATP SYNTHASE
146
What is the role of CASPASE?
ALLOWS SCRAMBALASE 2 WORK
Less simplified: it INHIBs P that INHIBS SCRAMBALASE
Scrambalase now works and FLIPS PHOSPHATIDYL SERINE to OUTER LEAFLET during apoptosis
147
Where is most of the mito P's encoded
in NUCLEAR GENOME
148
What is a feature of the H strand of mito DNA?
And light strands?
↑ ↑ G's
Encodes most genes
L-Stranf = ↑ ↑ C's
149
What is unique about the D-loop in mito DNA?
Contains CONTROL REGION, ORIGIN & PROMOTERS
150
Are the strands of mito DNA mono or polycistronic?
POLYCISTRONIC
Mn: think that mito evolved from bac which are polycis
151
How many GENES does mito DNA have?
How many are PROTEIN CODING?
tRNA?
rRNA?
37 genes -- ONLY 13 = P-coding
22 tRNA
2 rRNA
152
T/F mito DNA has histones
FALSE
153
What is the name of the pol and helicase for mitoDNA?
Gamma pol
Helicase = TWINKLE
154
What does the PLOG gene in mito do?
Encodes CATALYTIC SUBUNIT
155
What does a mut in PLOG lead to?
↓ [mitoDNA]
| Mutation in mtDNA
156
T/F mtDNA has NO okozaki fragments
TRUE
157
Characteristics of AZT
THYMIDINE ANALOG but has 3 N's @ 3' end so STOPS ELONGATION of RT in virus
BUT also FCs Dpol GAMMA → ↓ ↓ mtDNA = myopathy
158
T/f mRNAs in mito are capped
FALSE.... not capped
159
Name of diz:
| Mut in PLOG or twinkle, late onset, BILATERAL PTOSIS
Progressive External Opthalmoplegia
| PEO
160
Mito TC:
Where are the promoters in the mtDNA?
What is made?
What is unique in post-TC process?
Promoters in D-region
Product = POLYCISTRONIC transcript
-NO CAPPING
161
Mito TL:
What AA does mito TL start with?
Is there more or less wobble than normal?
Start with N-FORMYL Methionine ... ~ to bacteria
MORE WOBBLE
162
Main differences btw nuclear genome and mito genome (6)
Mito genome =
1) LESS genes (37)
2) NO INTRONS
3) NO RECOMBINATION
4) maternal inheritance
5) NO HISTONES
6) FASTER MUTATIONS b/c of free radicals
163
What are the 3 major types of mut's in mito inheritance
Point
Deletion/duplication
Missense
164
How do you define heteroplasmy in mito genes?
MIX in normal and mut mito within a cell.
When these get passed on in inheritance, the more the mut mito that get passed on after BOTTLENECK = ↑r chance of diz
But MUST PASS THRESHOLD
165
Severe mutations will be observed in homo or hetero PLASMY?
HETERO ONLY
B/c mut in homoplasmy then = FATAL
166
Genetic bottleneck for mtDNA
= RANDOM SAMPLING
= # of mut mito inherited is by random chance
167
2 GIANT DELETION of mtDNA diz's = ?
KSS - Kearns-Sayre syn
| Pearson syn
168
```
What diz?
Giant deletion of mtDNA
WITHOUT bone marrow development
LATE onset
Only FX MUSCS
```
Kearns Sayre Syn
| KSS
169
What diiz?
GIANT mtDNA deletion
WITH bone marrow development
FXs ALL TISSUES
PEARSON syn
170
What are the 2 diz's of mito tRNA gene Mutation?
MELAS
| MERRF
171
What is mutated in this condition?
| STROKE like episodes
Mut gene = tRNA LEUCINE
Diz = MELAS
Mn: Stroke = melaS
Mn: Leu ~ Lu → Meli → melas
ALWAYS heteroplasmic
172
Which is the ONLY HOMOPLASMIC mito diz that is non-fatal?
LHON
173
What is the mutation and the diz?
| PROGRESSIVE epilepsy
Mut in tRNA LYSINE
Diz= MERRF
174
Which diz's are cause by what:
GIANT mtDNA DELETIONS?
Mito tRNA mut?
Mito P-coding gene mut?
GIANT mtDNA DELETIONS = pearson and kearn sayre
Mito tRNA mut = MERRF & MELAS
Mito P-coding gene mut = LHOM & NARP
175
Mutation in SUBUNITS of COMPLEX I (NADH DEHYDROGENASE)
LHON
Bilat visual failure
176
HOMOPLASMIC diz
LHON
Mut nadh dehydrogenase (Complex I)
177
What is the diz?
mut ATPase 6 gene of COMPLEX V
NARP (musc weak and retinitis pigmentosa)
