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Flashcards in ch 28 genes Deck (51):
1

ATM gene is mutated (11q22-q23)

Ataxia-telangiectasia
-encodes the kinase that helps with DS DNA breaks and many other cellular housekeeping functions

2

overexpression of the receptor for PDGFRA

proneural subtype of infiltrating astrocytomas
-increasedRTK signaling

3

mutations in PTEN (TS gene)

classic subtype of infiltrating astrocytomas

4

BRAF mutations

-Pilocytic astrocytoma
-Gangliogliomas (this will cause them to return
-Translocations that separate the kinase domain from the inhibitory domain

5

mutation in TNF receptor 7 (TNFR7)

meningiomas

6

metation on PA1 on chromo 14 and PS2 on chromo 1

encode presenilins: GoF in y-secretase => increased AB --> Alzheimers Dis

7

deletions of chr 10

classic subtype of infiltrating astrocytomas

8

Defect in the gene encoding for progranulin

FTLD-TDP
-NOT assoc w ALS
-linked w inflamm

9

overexpression of genes in the TNF and NF-kB pathways

mesenchymal type of infiltrating astrocytomas

10

mutations in WNT and monosomy of chr 6

WNT type medullobalstoma

11

mutations in hSNF5/INI1 (chr 22).

Atypical teratoid/rhabdoid tumors

12

Defect in intermediate filament proteins like GFAP

Alexander dz

13

Defect in gene coding for myelin formation.

Pelizaeus-Merzbacher dz

14

The AV4 missense mutation of SOD1

most common mutation that leads to ALS

15

deletions of the NF1 gene on chr 17

mesenchymal type of infiltrating astrocytomas
-lower expression of the NF1 protein

16

hexanucleotide repeat in the 5’ UTR of C9orf72

FTLD-TDP
-also assoc w ALS

17

K27M (lys to met) mutation in histone H3.1 or H3.3.

Brainstem glioma

18

mutations in PTEN resulting in PI3K/AKT signaling activity

Cowden syndrome
-Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos Dz

19

auto rec deficiency of the lysosomal enzyme arylsulfatase A

Metachromatic leukodystrophy
-build up of sulfatides

20

High levels of expression of neuronal markers: NEFL, GABRA1, SYT1, SLC12A5

Neural type of infiltrating astrocytomas

21

defects in DJ-1, PINK1, and parkin

Auto rec forms of PD
-cause mito probs

22

isochromosome 17 (i17q) and no MYC amplification

Group 4 Medulloblastoma
-Mutation in i17q makes a medulloblastoma more resistant to chemo &worse prognosis

23

mutations in the PTCH gene resulting in up regulation of SHH

Gorlin syndrome
-cause Medulloblastoma

24

PNRP gene at residue 178:
If at codon 129 causes methionine in tandem with valine =

CJD

25

FUS

FTLD-FUS
-also assoc w ALS

26

Auto rec leukodystrophy from a defect in galactosylceramidase

Krabbe dis

27

mutations of TP53

-proneural subtype of infiltrating astrocytomas

-Li-Fraumeni Syndrome: cause Medulloblastomas

28

mutated MF2 gene in spinal cord, but not in other places

Ependymomas

29

X-linked polyglutamine repeat expansion in the androgen receptor

Spinal and bulbar muscular atrophy (Kennedy dz)

30

Expansion of GAA trinucleotide repeat for the mito protein frataxin (9q13).

Friedreich ataxia
-Clinical features correlate with the amount of frataxin present as fraxaxin is needed for oxphos.
-more free Fe in the mito with less frataxin that can lead to more oxidative damge.

31

SMN1 deletion or SMN2 copy # varaition

Spinal muscular atrophy SMA type III (kugelberg-welander dz)
--creates for an unstable protein

32

PNRP gene at residue 178:
If at codon 129 causes methionine =

-Fatal familial insomnia (FFI)

33

α-syn is mutated (chr 4q21)

autosomal dominant Parkinsons dis
- a Lipid-binding protein assoc w synapses, pt mutations, and amplifications

34

point mutations in IDH1 and IDH2

proneural subtype of infiltrating astrocytomas AND oligodendrogliomas
-in the lower grade II/III glioblastomas.
-IDH1 assoc w better prognosis in glioblastomas grades III and IV
-in oligodendroglioma, if have1p and 19q co-deleiton: more sensative to chemo

35

amplification of the EGFR oncogene (increases RTK signaling)

classic subtype of infiltrating astrocytomas
-not have this in oligodendrogliomas: how can tell apart

36

TSC1 (hamartin on chr 9q34) and TSC2 (tuberin on chr 16p13.3) are mutated

Tuberous sclerosis complex
-preventing mTOR (which normally controls cell size)

37

loss of the NF2 gene on chr 22 that encodes for merlin

meningiomas

38

mutations in APC or mismatch repair genes

Turcot syndrome
-cause Medulloblastoma or glioblastoma

39

Mutation/extra copy in APP

familial Alzheimers Dis

40

Defect in genes for subunits of translation initiation factor eIF2B

Vanishing white matter leukoencephalopathy

41

mutation is in the gene encoding mito tRNA-leucine (MTTL1)

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

42

GoF in LRRK2

autosomal dominant Parkinsons dis
-a cytoplasmic kinase: gains fct to hyperphosphoryate Tau --> not bind MTs --> aggregates

43

CAG expansion in SCA1, SCA2, SCA3 (Machado-Joseph dz), SCA6, SCA7 (vision impairment too), SCA17

Spinocerebellar ataxias (SCAs)

44

defect in apolipoprotein E (ApoE) locus on Chr 19, esp in the ε4 allele

-Increases the risk and lower the age of onset of Alzheimers Dis
-Promotes AB generation and deposition

45

trinucleotide repeat expansion : of CAG repeats at the N terminus of
-HTT on chr 4p16.

Huntingtons Dis
-inverse relationship between the number of repeats and the age of onset.
-huntingtin protein

46

focal deletions of 9p21 (hemizygous del of CDKN2A)

classic subtype of infiltrating astrocytomas AND oligodendrogliomas

47

mutation with the VHL gene (3p25.3) that normal inhibits HIF-1

Von Hippel-Lindau ds

48

Defect (LoF or GoF) in the TDP-43 gene

FTLD-TDP
-also assoc w ALS

49

MYC amplification and isochromosome 17 (i17q)

Group 3 Medulloblastoma
-Mutation in i17q makes a medulloblastoma more resistant to chemo &worse prognosis

50

defects in sonic hedgehog
-May have MYCN amplification

SHH type medullobalstoma

51

X linked rec mutation in the ATP binding cassette transporter family of proteins (ABCD1) that transports molecules into the peroxisome.

Adrenoleukodystrophy