Genetics of Brain Diseases Flashcards
1
Q
What are the types of genetic brain disease?
A
Congenic eg mental retardation
Onset after birth eg huntington’s
2
Q
What is the cause of Huntington’s Disease
A
Triplet expansion of huntintin gene
3
Q
What is the cause of alzheimer’s disease
A
THree highly penetrant genes found plus one strong risk factor and many weak
Probably many environmental factors
4
Q
What is the cause of schizophrenia
A
Eleven loci implicated
Genes only now being identified
5
Q
Describe presenilins
A
PS-1 is on chr14
Dominant and fully penetrant
6
Q
Describe APP
A
amyloid precursor protein large gene with 19 exons found on chr21 three isoforms; 695, 751, 770 aa post translationally modified in golgi then cleaved at cell surface or in endosomes the A beta fragment is malign the p3 fragment is benign several alzheimers mutations that cluster at cleavage sites amyloid cascade hypothesis
7
Q
Give some genes implicated in Parkinson’s disease
A
SNCA Parkin PARK3 UCH-L1 PINK1 DJ-1
