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NEURO 210 > Developmental Genetics of the Human Brain > Flashcards

Developmental Genetics of the Human Brain Flashcards

1
Q

What is the most common way of imaging the fetus in vivo?

A

MRI, ultrasound.

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2
Q

Telencephalon

A

“Furthest brain”; Cortex

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3
Q

Rhombencephalon

A

Brainstem.

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4
Q

Seven stages of development

A
  1. Gastrulation
  2. Primary Neurulation
  3. Prosencephalic development
  4. Neuronal proliferation
  5. Neuronal migration
  6. Organization
  7. Myelination
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5
Q

What occurs in gastrulation

A

Cells differentiate into three layers: endoderm, mesoderm, and ectoderm.

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6
Q

Which layer formed in gastrulation develops into neural tissue?

A

Ectoderm layer.

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7
Q

What occurs in primary neurulation?

A

Ectodermal layer folds into a tube structure.
BMP dorsal secretion and SHH ventral secretion lead to gradient inducing differentiation of ectodermal cells into neuron subtypes.

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8
Q

Where is SHH secreted from?

A

Notochord

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9
Q

Which side of the neural tube closes first?

A

Anterior pore.

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10
Q

What is the result of the anterior pore closure defect?

A

Anencephaly; lack of development and organization in brain.

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11
Q

What is the result of posterior pore closure defect?

A

Spina bifida.

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12
Q

What occurs in prosencephalic development?

A

Anterior neural tube divides into prosencephalic vesicles.
Specializes into 3 vesicles: forebrain, midbrain, hindbrain, and spinal cord.
Further specializes into telencephalon, diencephalon, mesencephalon, metencephalon, and mylencephalon.

ALSO FORMATION OF BRAINSTEM

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13
Q

Diencephalon

A

“Inter” brain

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14
Q

Telencephalon

A

“Far” brain

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15
Q

Mesencephalon

A

“Mid” brain

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16
Q

Metencephalon

A

“Behind” brain

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17
Q

Mylencephalon

A

“After brain”

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18
Q

What structures are in the forebrain?

A

Telencephalon and diencephalon

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19
Q

What structures are in the midbrain?

A

Mesencephalon

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20
Q

What structures are in the hindbrain?

A

Metencephalon and Mylencephalon

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21
Q

Holoprosencephaly

A

A condition resulting from a defect in the prosencephalic development stage. The neural tube does not divide or differentiate into different structures.

Results in low cognitive functioning, hypotonia, and/or microcephaly.

22
Q

Hypotonia

A

Decreased muscle tone

23
Q

Microcephaly

A

Decreased brain size

24
Q

What is a REUSED gene associated with holoprosencephaly?

A

SHH gene

25
Q

SHH pathway

A

Interaction with patched and smoothened receptors activate messenger GLI that results in transcription and proliferation.

26
Q

Mobius Syndrome

A

Faulty development of brainstem in the procephalic development stage that results in improper cranial nerve (3, 6) function.

Results in congenital partial or complete facial diplegia. As well as malformation of the limbs.

27
Q

Equinovarus

A

Malformation of limbs

28
Q

What is the cause of diseased brainstem development?

A

HOXb1 and Hoxb4 genes

29
Q

What animal was used in the HOX gene research? What were the results of this research?

A

drosophila; learned that there are very similar genetic organizations in HOX genes.

30
Q

What occurs in neuronal proliferation?

A

Thickening of brain tissue due to cell proliferation.

31
Q

Hemi-megalencephaly

A

Condition due to excessive cell proliferation in neuronal proliferation development stage: macrocephaly or hemi-macro cephaly.

32
Q

Tuberous sclerosis

A

A disease of skin and brain due to abnormal cell proliferation in neuronal proliferation developmental stage.

Intellectual disability, autism.

33
Q

What is tuberous sclerosis associated with/caused by?

A

Mutations in TSC1 or TSC2.

34
Q

Tuberous sclerosis tumors

A

Subependymal giant cell astrocytoma 9SEGA) that forms in the ventricular wall and causes improper drainage resulting in high pressure.

Often results in a fatality.

35
Q

What does lack of proliferation result in?

A

Microcephaly

36
Q

What do FOXG1 mutations cause?

A

Microcephaly

37
Q

What occurs in neuronal migration?

A

Cortex is divided into 6 layers via migration of neurons from ventricular cell walls.

38
Q

How do neurons migrate?

A

Neurons are born in the periventricular zone and are guided by undifferentiated “guide” cells that pull neurons out to their respective cortical regions.

39
Q

What type of migration occurs in neuronal migration?

A

Inside-out

40
Q

Periventricular Nodular Heterotopia

A

Improper migration of neurons in neuronal migration stage. Characteristically large ventricles with unregulated periventricular cells.
Results in epilepsy and cognitive dysfunction

41
Q

What genetic mutations cause PNH

A

Filamin 1
ARFGEF 2
Elastin (William’s syndrome)
Fragile X Syndrome

42
Q

What genetic interaction results in PNH

A

Filamin and Fragile X

43
Q

Lissencephaly

A

Improper migration results in a lack of gyri and sulci.

44
Q

What genes are associated with Lissencephaly

A 
LISI
14-3-3 varepsilon
Doublecortin
Reelin
ARX
45
Q

What occurs in the organization stage?

A

Neurite outgrowth; dendrites and axons overlab and lead to increased branching. Formation of dendritic spines.

46
Q

What diseases are associated with abnormal dendritic arbor/spine

A

Down syndrome
Fragile X
Angelman
ID and ASD

47
Q

Fragile X Syndrome

A

Most common ID in males
Dysmorphic features
Autism/Epilepsy
Mutation in Fragile X gene leading to absence of Fragile X protein

48
Q

What does an absence of Fragile X protein result in

A

Fragile X Syndrome

Long and skinny dendritic spines, poor neurotransmission

49
Q

What are 2 functions of glia?

A

Recycling of glutamate into glutamine

Regulation of Calcium flux

50
Q

What occurs in the Myelination stage?

A

Glia proliferation

51
Q

What does myelin allow?

A

Saltatory conduction, increased AP

NEURO 210 (13 decks)

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