PRPH2/RDS

Question 1

what is Peripherin-2?

Answer 1

• 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
    *

Question 2

what is peripherin-2 function?

Answer 2

• adhesion molecule
• involved in stabilization and compaction of OS disks
• in other words in DISK MORPHOGENESIS

Question 3

what DISEASED are due to a mutation in the PRPH2 gene?

Answer 3

• 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

Question 4

PRPH@ AKA as?

Answer 4

RDS retinal degeneration SLOW

Question 5

how many disks per each Rod OS?

Answer 5

1000 disks

Question 6

which OS are longer? rods or cones?

Answer 6

the RODS have longer OS

Question 7

what is the structure of the puter segments?

where does PRPH@ plays a role

Answer 7

PRPH@ peripherin

• is not a phototransduction protein
• plays a role in OS morphogenesis
  
  • precsicely at the rim of the OS (the 3rd domain)

Question 8

why is peripherin called RDS?

Answer 8

it was named RDS in mice initially

it was one of the OLDEST animla models

then in humans PRPH@

Question 9

how many mutations exist for the PRPH2 gene?

Answer 9

more than 90

Question 10

where is the PRPH2/RDS gene>

Answer 10

6p.21.2

26 Kbases

3 exons

Question 11

where is the ROM1 gene?

Answer 11

chromosome 11

Question 12

is digenic RP (PRPH@ + ROM!) rare?

what inheritance?

Answer 12

AD and very rare 0.5% of adRP cases

Question 13

AOFMVD is associated to mutations in what genes?

Answer 13

VMD2

PRPH2