Journal Club Flashcards
What are Cranial and Spinal meningiomas usually associated with
NF2 - a tumour suppressor syndrome and SWI/SNF chromatin-remodeling complex subunits
familial meningioma
more likely to occur in family members than chance
- there is a subset of individuals with familial meningiomas not associated with NF2 mutations
what percent of exons were sequenced in methods
73-77%
function of the SMARCE1 gene
induces apoptosis
what did they focus on when they realized there was no NF2 mutation
SWI/SNF chromatin remodelling complex
what was the mutation in the SMARCE1 genome in family one
-on the first base of exon 9 there was a mutation, stop codon was introduced resulting in mRNA decay
loss of heterozygosity
loss of the wild-type allele
what was the mutation in the SMARCE1 genome in family two
- exon 5 also had a premature stop codon (in-frame deletion of exon 5)
- alternatively spliced the mRNA transcripts
Family three SMARCE1 mutation
- no SMARCE1 mutation identified in 34 cranial meningioma
- mutation specific to spinal tumours
Immunohistochemistry
-antibody attached to colour producing enzyme that binds to proteins
what does the loss of heterozygosity suggest
that it functions as a tumour suppressor to in induce apoptosis
define meningioma
benign tumour that arises from meninges of the brain and spinal cord called the arachnoid
somatic mutations
non-inheritable mutation occurring in a somatic cell
germ line mutation
forms the reproductive cells, inheritable, embryonic cell lineage
sporadic
occurs in single and scattered cases
familial
transmitted and expressed by members of a family
is there clinical symptoms of NF2
no
the chromatin-remodelling complex in this paper
- 2 Mda multi-subunits (multi-protein)
- regulates gene transcription
- alters the chromosome structure by nucleosome remodelling
exome sequencing
- selective sequencing of the coding regions of the genome
- exons represent regions of the gene that turn into protein
- used to screen for genomic mutations
family 2 mutation (again)
- insertion of the first 18 bases of intron 5 which introduced an in-frame premature stop codon after the 3rd codon
- in-frame deletion of exon 5 which contains an important functional domain
what colour is cranial stain
pink (eosin)
what colour is spinal stain
blue
what is loss of heterozygosity
- when there is a mutation in a wild-type allele
- individuals normal cells are heterozygous (no disease)
- this mutation leads to cancerous phenotype
What family observed a loss of heterozygosity
family 3
