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BMSC3146 > Autism > Flashcards

Autism Flashcards

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

A

ASD prevalence in TSC = 40.5%

23
Q

Cortical tumours in TSC

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

A

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

25
Q

TSC1 and TSC2 are

A

Usually tumour suppressors

Regulating the mammalian target of rapamycin (mTOR) signalling pathway

26
Q

Mutations in TSC1 and TSC2 ..

A

Hyperactivation of pathway causing abnormal cell growth and tumourgenesis uncontrolled pathway

27
Q

Evidence for TSC

Jeste et al 2014

A

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
Q

Jeste et al 2014 what percentage were diagnosed with autism

A

55%

29
Q

Autism observation scale was evaluated by

A

Capal et al 2017

found it a useful clinical tool in determining which infants were at increased risk of ASD

30
Q

Activity dependent neuroprotective protein (ADNP)

A

Complex neurodevelopmental disorder that affects the brain and many other areas/ functions of the body

31
Q

ADNP causes mild to severe delays in

A

Intelligence, speech and global motor planning

Causes behavioural problems such as ASD

32
Q

Molecular basis of ADNP

A

Caused by non-inhertied (de novo) ADNP gene 20q13.13 mutation

33
Q

Who discovered ADNP

A

Helsmoortel et al 2014

34
Q

What is ADNP

A

Vasoactive intestinal peptide responsive gene

Important in brain function and development as well as protecting cells against electrical blockade

35
Q

Uncertain theory of ADNP

A

Thought that abnormal gene product competes with WT to bind to BAF complex

36
Q

Arnett et al 2018 evidence for ADNP

A

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
Q

16p11.2 deletion syndrome

A

most frequent genetic mutation observed in ASD (Weiss et al 2008)

38
Q

Deletion mutation

A

Part of a chromosome or sequence of DNA that is lost during DNA replication

39
Q

Deletion or duplication of 1 copy of 16p11.2 is associated with

A

Impaired brain function and ASD

40
Q

Ciuladaitc et al 2011

What percent of ASD patients have 16p11.2

A

0.44%

41
Q

All patients with 16p11.2 mutation show

A

Macrocephaly and flat midface

Mean head circumference for deletion was sig larger than population mean

42
Q

Zebrafish model of 16p11.2 genome include homologs of human gene

A

84%

Baker-Lee et al 2012

43
Q

Morpholinos

A

Block splicing or translation of a specific mRNA

Resulting in decrease or even lost expression of the respective gene product

44
Q

Use morpholinos in 16p11.2 to..

A

known down kctd13 by ~70% sig increase in head size

45
Q

Zebrafish model of 16p11.2 doesn’t

A

Exclude other possibilities that other genes in human region of 16p11.2 also contribute to head size

46
Q

Social housing experiment Yang et al 2015

A

Explore role of social housing environment in the development of social and cognitive phenotypes

47
Q

Yang et al 2015 testes 16p11.2

A

Heterozygotes with cagemates of the same genotype and those with opposite genotype

48
Q

Phase 1 of Yang et al 2015 social housing

A

Mouse put in arena with other mouse in the cylinder

WT is more interested in mouse than empty cylinder

49
Q

Phase 2 of Yang et al 2015 social housing

A

Measure preference for social novelty/ memory

Stranger put in, WT moves attention to new mouse

50
Q

Yang et al 2015 found that same genotype..

A

Showed sig decrease in exploration of +/- in arena exploration and in mixed genotype
Sig decrease in front approach in same genotype

51
Q

Object location memory Yang et al 2015

A

+/- were 50% smaller than +/+
Become subordinate animals
Low social status affect cognitive function

52
Q

mGluR5 theory of FXS

A

Excessive protein synthesis of synaptic plasticity gating proteins occur due to mGluR5 activation
Due to absence of FMRP

53
Q

Treatment with mGLuR5

A

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

BMSC3146 (10 decks)

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