Diseases Flashcards
(8 cards)
1
Q
What mutation is OLWS caused by?
A
Mutation in gene which codes for a receptor protein in melanocyte cell membrane
2
Q
What genes are needed for OLWS?
A
homozygous recessive
3
Q
Symptoms of LWS
A
- absence of melanocytes in skin and eyes
- all-white
- pink skin
- blue eyes
- deaf
- impact intestines
4
Q
Symptoms of HYPP
A
- muscle rigidity
- tremors
- cramp
- heart attack
- elevated HR and RR
- first signs appear 2-3 years
5
Q
Gene mutation for HYPP
A
SCN4A - single nucleotide substitution
normal allele: n
Mutant allele: H
6
Q
Autosomal dominant gene
A
homozygous dominant HH
heterozygous Hn
7
Q
Impact of SCN4A
A
- sodium channel is unable to inactivate
- sodium conductance is sustained
- repolarisation does no occur
- permanently tense
- twitching or paralysis
8
Q
Avoidance of attacks from HYPP
A
- low K diet
- regular exercise
- diuretics help to lose K in urine
- genetic testing
