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BMSC3146 > Autism > Flashcards

Autism Flashcards

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1
Q

Fragile X syndrome is the

A

Most frequent monogenic cause of ASD (Bailey et al)

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2
Q

FXS is a genetic disease that..

A

Causes a range of developmental problems:

Learning difficulties and cognitive impairment

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3
Q

Males are more severely affected than females as

A

X-linked

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4
Q

Features of FXS

A

Long narrow face, large ears, flat face and macroorchidism in males

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5
Q

Diagnosed by blood test

A

FMRP1

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6
Q

Most FXS patients show ASD

A

Affect communication and social interaction

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7
Q

Molecular basis of FXS

A

CGG trinucleotide expansion repeat

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8
Q

Gene locus for FXS

A

X q27.3 alteration in FMR1 gene

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9
Q

Normal healthy

A

6-55 repeats (mRNA produced from FMRP)

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10
Q

Premutation

A

55-200 repeats

May show mild cognitive impairment and motor defects in old age

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11
Q

Abnormal mutation

A

More than 200 to 1000 repeats

No mRNA no protein

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12
Q

Evidence with use of drosophila orthologue

A

dFMR1

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13
Q

Orthologue looks at

A

Sex-relevant to ASD as it involves social interaction

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14
Q

Drosophila model looks at

A 
Courtship behaviour 
Forward to female 
Tapping 
Vibrating 
Copulation
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15
Q

Dockendorff et al 2002

A

10 min courtship assay with virgin female and 5 day old mutant male

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16
Q

Dockendorff mutants show

A

Sig less courtship than WT animals
Spent sig less time in active courtship
More in forward tapping phase
Same in immature male- no courtship in mutant

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17
Q

Advantages of Dockendorff

A

Cheap, quick generation interval and brain autopsy

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18
Q

Disadvantages of Dockendorff

A

Sequence identity between FMR1 and dFMR1 too low

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19
Q

Tuberous Sclerosis Complex (TSC)

A

Leads to some forms of ASD - behavioural problems

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20
Q

TSC causes

A

Benign tumours to develop

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21
Q

Type of disorder TSC

A

autosomal dominant

1 in 6000

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22
Q

Vignoli et al 2015

Study These Flashcards
A

ASD prevalence in TSC = 40.5%

23
Q

Cortical tumours in TSC

Study These Flashcards
A

Benign tissue growth replacing normal tissue disrupting highly organised neurological connection of cerebral cortex
Enclosed in skull, displace parts of brain

24
Q

Molecular basis of TSC

Study These Flashcards
A

Single gene mutation in TSC1 (hamartin) or TSC2 (tuberin)

25
TSC1 and TSC2 are
Usually tumour suppressors | Regulating the mammalian target of rapamycin (mTOR) signalling pathway
26
Mutations in TSC1 and TSC2 ..
Hyperactivation of pathway causing abnormal cell growth and tumourgenesis uncontrolled pathway
27
Evidence for TSC | Jeste et al 2014
40 infants with TSC in longitudinal cohort study 6,9,12 and 18 months autism observation scale 18,24, 36 months Diagnostic observation scale
28
Jeste et al 2014 what percentage were diagnosed with autism
55%
29
Autism observation scale was evaluated by
Capal et al 2017 | found it a useful clinical tool in determining which infants were at increased risk of ASD
30
Activity dependent neuroprotective protein (ADNP)
Complex neurodevelopmental disorder that affects the brain and many other areas/ functions of the body
31
ADNP causes mild to severe delays in
Intelligence, speech and global motor planning | Causes behavioural problems such as ASD
32
Molecular basis of ADNP
Caused by non-inhertied (de novo) ADNP gene 20q13.13 mutation
33
Who discovered ADNP
Helsmoortel et al 2014
34
What is ADNP
Vasoactive intestinal peptide responsive gene | Important in brain function and development as well as protecting cells against electrical blockade
35
Uncertain theory of ADNP
Thought that abnormal gene product competes with WT to bind to BAF complex
36
Arnett et al 2018 evidence for ADNP
Examined ASD phenotype in samples of youth with ADNP 64% met DSM-5 criteria for ASD Reported ASD symptoms ascertained for ADNP syndrome and characterised by relatively mild social communication deficits
37
16p11.2 deletion syndrome
most frequent genetic mutation observed in ASD (Weiss et al 2008)
38
Deletion mutation
Part of a chromosome or sequence of DNA that is lost during DNA replication
39
Deletion or duplication of 1 copy of 16p11.2 is associated with
Impaired brain function and ASD
40
Ciuladaitc et al 2011 | What percent of ASD patients have 16p11.2
0.44%
41
All patients with 16p11.2 mutation show
Macrocephaly and flat midface | Mean head circumference for deletion was sig larger than population mean
42
Zebrafish model of 16p11.2 genome include homologs of human gene
84% | Baker-Lee et al 2012
43
Morpholinos
Block splicing or translation of a specific mRNA | Resulting in decrease or even lost expression of the respective gene product
44
Use morpholinos in 16p11.2 to..
known down kctd13 by ~70% sig increase in head size
45
Zebrafish model of 16p11.2 doesn't
Exclude other possibilities that other genes in human region of 16p11.2 also contribute to head size
46
Social housing experiment Yang et al 2015
Explore role of social housing environment in the development of social and cognitive phenotypes
47
Yang et al 2015 testes 16p11.2
Heterozygotes with cagemates of the same genotype and those with opposite genotype
48
Phase 1 of Yang et al 2015 social housing
Mouse put in arena with other mouse in the cylinder | WT is more interested in mouse than empty cylinder
49
Phase 2 of Yang et al 2015 social housing
Measure preference for social novelty/ memory | Stranger put in, WT moves attention to new mouse
50
Yang et al 2015 found that same genotype..
Showed sig decrease in exploration of +/- in arena exploration and in mixed genotype Sig decrease in front approach in same genotype
51
Object location memory Yang et al 2015
+/- were 50% smaller than +/+ Become subordinate animals Low social status affect cognitive function
52
mGluR5 theory of FXS
Excessive protein synthesis of synaptic plasticity gating proteins occur due to mGluR5 activation Due to absence of FMRP
53
Treatment with mGLuR5
Use inhibitor of mGluR5 mPEP to treat McBride et al 2005 - administered to flies (8.6um) for 4 days Didnt reduce mushroom lobe fusion Therefore doesnt work

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