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Neuro Unit 5 > Epigenetics and ASD > Flashcards

Epigenetics and ASD Flashcards

1
Q

ASD is characterized by

A

problems in social interactions, communication, or repetitive behaviors

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2
Q

Rett syndrome

A

mutation in MECP2, gene regulates epigenetic information (X-linked)

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3
Q

Most common mutation linked to ASD

A

15q11-13 deletion/duplication

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4
Q

Why are epigenetic marks linked to neurodevelopment abnormalities?

A

plasticity; integrate genetic and environmental factors

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5
Q

Early signs of ASD

A

no emotional display, no/regression of babbling and communication, no gesturing

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6
Q

DSM-V criteria for ASD

A

social deficits and repetitive behavior or interests present in early childhood development, can’t be explained by intellectual disability (no genetic component)

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7
Q

Deficits in social communication and social interactions

A

deficits in social-emotional reciprocity, deficits in communicative behaviors, deficits in developing, maintaining, and understanding relationships

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8
Q

Restricted, repetitive patterns of behavior, interests, or activities

A

stereotyped repetitive motor movements, insistence on sameness or inflexibility to change in routine, ritualized patterns, restricted, fixated interests, hyper- and hyporeactivity to sensory input

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9
Q

Incidence of ASD

A

1 in 88, Males > Females by 4X

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10
Q

Neurological abnormalities

A

alterations in size and time course of development that affects the proper brain connectivity

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11
Q

What areas are affected by ASD

A

cerebral cortex, amygdala, hippocampus, and corpus callosum

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12
Q

ASD brain structure

A

abnormal cortical development, abnormal size of amygdala (mature size by age 8)

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13
Q

Long-term consequences of ASD

A

not progressive, but life-long

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14
Q

Co-morbitites with ASD

A

seizures, allergies, asthma, digestive disorders

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15
Q

ASD etiology is considered to be a combination of

A

genetic and environmental factors

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16
Q

ASD genetic component

A

not a single allele, rather a combination of predisposing alleles

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17
Q

Copy number variation

A

10% ASD patients have de novo acquired ASD

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18
Q

Angelman Syndrome

A

imbalanced imprinting, Chr15 (q11-13)

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19
Q

Beckwith-Wiedemann Syndrome

A

imbalanced imprinting, Chr11 (p15)

20
Q

Fragile X Syndrome

A

loss of FMR1 expression

21
Q

Turner Syndrome

A

45, X in females

22
Q

Enivornmental Factors

A

viral infection, vaccination, chemical agent exposure, parental age, pharmaceutical exposure

23
Q

Epigenetics

A

integrates environmental influences and genetics by altering expression of genes without changing the primary sequence of DNA

24
Q

2 types of Epigenetic marks

A

post-translational modification of histones and DNA methylation

25
Q

What enzyme causes DNA methylation

A

DNA methyltransferases

26
Q

Site of DNA methylation

A

cytosines of CpG dinucleotides

27
Q

DNA Methylation INHIBITS

A

gene expression

28
Q

DNA Methylation works by

A

DIRECTLY preventing binding of TFs
DIRECTLY recruiting factors that repress transcription
INDIRECTLY recruiting methyl-CpG binding proteins/enzymes to alter chromatin structure

29
Q

Epigenome

A

differs in cell types/tissues to allow cells to express a particular set of genes

30
Q

Epimutations

A

may occur due to genetic mutations or environmental exposures (or randomly)

31
Q

Genomic Imprinting

A

epigenomic markers silence parent-of-origin-specific gene expression

32
Q

Imprinting is established in

A

germ lines and maintained throughout

33
Q

Imprinted domains

A

cluster of imprinted genes allows for shared common regulatory features

34
Q

Imprinted gene functions

A

most involved with embryonic development and growth (placental development), postnatal functions (suckling and metabolism)

35
Q

Parental conflict hypothesis

A

Paternal Expressed genes: growth and fitness and ind survival
Maternal Expressed genes: growth limiting for mother’s survival

36
Q

Imprinting disorders

A

Prader-willi, Angelman, Beckwith-Wiedemann, Silver-Russel

37
Q

Prader-Willi

A

paternal inheritance defect in 15q11-13 (paternal SNRPN and NDN, and maternal UBE3A)

38
Q

Angelman’s

A

maternal inheritance defect in 15q11-13 (paternal SNRPN and NDN, and maternal UBE3A)

39
Q

Epigenetic etiology of ASD

A

clear association to epigenetics

40
Q

Epigenetic syndroms result from deregulation of

A
  1. genes regulated by epigenetic markers

2. genes involved in epigenetic mechanisms

41
Q

Uniparental disomy

A

both copies of chromosomal pair form 1 parent, chromosome carries imprinted genes will result in overexpression or silenced

42
Q

Chromosomal region 7q

A

linked to ASD, contians imprinted gene clusters

43
Q

Genes involved in brain function/dev

A

epigenetic markers can cause aberrant brain development when on genes involved

44
Q

ASD’s causes are

A

multifactorial and epigenetic markers integrate the environmental influences

45
Q

State with highest incidence of ASD

A

Utah and NJ

46
Q

State with lowest incidence

A

WI, AL, and FL

Neuro Unit 5 (6 decks)

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