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NS2 > ch 28 genes > Flashcards

ch 28 genes Flashcards

1
Q

ATM gene is mutated (11q22-q23)

A

Ataxia-telangiectasia

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

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2
Q

overexpression of the receptor for PDGFRA

A

proneural subtype of infiltrating astrocytomas

-increasedRTK signaling

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3
Q

mutations in PTEN (TS gene)

A

classic subtype of infiltrating astrocytomas

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4
Q

BRAF mutations

A
  • Pilocytic astrocytoma
  • Gangliogliomas (this will cause them to return
  • Translocations that separate the kinase domain from the inhibitory domain
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5
Q

mutation in TNF receptor 7 (TNFR7)

A

meningiomas

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6
Q

metation on PA1 on chromo 14 and PS2 on chromo 1

A

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

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7
Q

deletions of chr 10

A

classic subtype of infiltrating astrocytomas

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8
Q

Defect in the gene encoding for progranulin

A

FTLD-TDP

  • NOT assoc w ALS
  • linked w inflamm
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9
Q

overexpression of genes in the TNF and NF-kB pathways

A

mesenchymal type of infiltrating astrocytomas

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10
Q

mutations in WNT and monosomy of chr 6

A

WNT type medullobalstoma

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11
Q

mutations in hSNF5/INI1 (chr 22).

A

Atypical teratoid/rhabdoid tumors

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12
Q

Defect in intermediate filament proteins like GFAP

A

Alexander dz

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13
Q

Defect in gene coding for myelin formation.

A

Pelizaeus-Merzbacher dz

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14
Q

The AV4 missense mutation of SOD1

A

most common mutation that leads to ALS

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15
Q

deletions of the NF1 gene on chr 17

A

mesenchymal type of infiltrating astrocytomas

-lower expression of the NF1 protein

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16
Q

hexanucleotide repeat in the 5’ UTR of C9orf72

A

FTLD-TDP

-also assoc w ALS

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17
Q

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

A

Brainstem glioma

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18
Q

mutations in PTEN resulting in PI3K/AKT signaling activity

A

Cowden syndrome

-Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos Dz

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19
Q

auto rec deficiency of the lysosomal enzyme arylsulfatase A

A

Metachromatic leukodystrophy

-build up of sulfatides

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20
Q

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

A

Neural type of infiltrating astrocytomas

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21
Q

defects in DJ-1, PINK1, and parkin

A

Auto rec forms of PD

-cause mito probs

22
Q

isochromosome 17 (i17q) and no MYC amplification

A

Group 4 Medulloblastoma

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

23
Q

mutations in the PTCH gene resulting in up regulation of SHH

A

Gorlin syndrome

-cause Medulloblastoma

24
Q

PNRP gene at residue 178:

If at codon 129 causes methionine in tandem with valine =

A

CJD

25
Q

FUS

A

FTLD-FUS

-also assoc w ALS

26
Q

Auto rec leukodystrophy from a defect in galactosylceramidase

A

Krabbe dis

27
Q

mutations of TP53

A
  • proneural subtype of infiltrating astrocytomas

- Li-Fraumeni Syndrome: cause Medulloblastomas

28
Q

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

A

Ependymomas

29
Q

X-linked polyglutamine repeat expansion in the androgen receptor

A

Spinal and bulbar muscular atrophy (Kennedy dz)

30
Q

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

A

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
Q

SMN1 deletion or SMN2 copy # varaition

A

Spinal muscular atrophy SMA type III (kugelberg-welander dz)

–creates for an unstable protein

32
Q

PNRP gene at residue 178:

If at codon 129 causes methionine =

A

-Fatal familial insomnia (FFI)

33
Q

α-syn is mutated (chr 4q21)

A

autosomal dominant Parkinsons dis

- a Lipid-binding protein assoc w synapses, pt mutations, and amplifications

34
Q

point mutations in IDH1 and IDH2

A

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
Q

amplification of the EGFR oncogene (increases RTK signaling)

A

classic subtype of infiltrating astrocytomas

-not have this in oligodendrogliomas: how can tell apart

36
Q

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

A

Tuberous sclerosis complex

-preventing mTOR (which normally controls cell size)

37
Q

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

A

meningiomas

38
Q

mutations in APC or mismatch repair genes

A

Turcot syndrome

-cause Medulloblastoma or glioblastoma

39
Q

Mutation/extra copy in APP

A

familial Alzheimers Dis

40
Q

Defect in genes for subunits of translation initiation factor eIF2B

A

Vanishing white matter leukoencephalopathy

41
Q

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

A

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

42
Q

GoF in LRRK2

A

autosomal dominant Parkinsons dis

-a cytoplasmic kinase: gains fct to hyperphosphoryate Tau –> not bind MTs –> aggregates

43
Q

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

A

Spinocerebellar ataxias (SCAs)

44
Q

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

A
  • Increases the risk and lower the age of onset of Alzheimers Dis
  • Promotes AB generation and deposition
45
Q

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

A

Huntingtons Dis

  • inverse relationship between the number of repeats and the age of onset.
  • huntingtin protein
46
Q

focal deletions of 9p21 (hemizygous del of CDKN2A)

A

classic subtype of infiltrating astrocytomas AND oligodendrogliomas

47
Q

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

A

Von Hippel-Lindau ds

48
Q

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

A

FTLD-TDP

-also assoc w ALS

49
Q

MYC amplification and isochromosome 17 (i17q)

A

Group 3 Medulloblastoma

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

50
Q

defects in sonic hedgehog

-May have MYCN amplification

A

SHH type medullobalstoma

51
Q

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

A

Adrenoleukodystrophy

NS2 (15 decks)

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