PRPH2/RDS Flashcards
1
Q
what is Peripherin-2?
A
- its a CELL surface glycoprotein
- in RODS and CONES
- in the outer segments!
- member of Tetraspanin family
- encoded by PRPH2 gene
- FUNCTION
- adhesion molecule
- involved in stabilization and compaction of OS disks
- in other words in DISK MORPHOGENESIS
- mutations cause
- RP
- macular degeneration
- vitelliform dystrophy
*
2
Q
what is peripherin-2 function?
A
- adhesion molecule
- involved in stabilization and compaction of OS disks
- in other words in DISK MORPHOGENESIS
3
Q
what DISEASED are due to a mutation in the PRPH2 gene?
A
- adRP
- digenic RP (PRPH2 + ROM1
- (2 genes causing disease but form a different locus)
- con-rod dystrophy
- Pattern dystrophies
- AOFMVD vitelliform macular dystrophy
- Butterfly
- Central Areolar dystrophy
- AMD
- RPA Albescens
- recessive LCA
4
Q
PRPH@ AKA as?
A
RDS retinal degeneration SLOW
5
Q
how many disks per each Rod OS?
A
1000 disks
6
Q
which OS are longer? rods or cones?
A
the RODS have longer OS
7
Q
what is the structure of the puter segments?
where does PRPH@ plays a role
A
PRPH@ peripherin
- is not a phototransduction protein
- plays a role in OS morphogenesis
- precsicely at the rim of the OS (the 3rd domain)
8
Q
why is peripherin called RDS?
A
it was named RDS in mice initially
it was one of the OLDEST animla models
then in humans PRPH@
9
Q
how many mutations exist for the PRPH2 gene?
A
more than 90
10
Q
where is the PRPH2/RDS gene>
A
6p.21.2
26 Kbases
3 exons
11
Q
where is the ROM1 gene?
A
chromosome 11
12
Q
is digenic RP (PRPH@ + ROM!) rare?
what inheritance?
A
AD and very rare 0.5% of adRP cases
13
Q
AOFMVD is associated to mutations in what genes?
A
VMD2
PRPH2
14
Q
A
