Lecture 6: Developmental Genetics of Human Brain Flashcards

1
Q

What can defects in brain develop lead to?

A
  • Epilepsy
  • Learning/Intellectual disabilities
  • Autism Spectrum Disorder
  • Brain Cancer
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2
Q

What is the oldest way of looking at the brain?

A

Pathology

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3
Q

What is most used to view the brain now?

A

MRI

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4
Q

Why is pathology through MRI not as useful as genetics?

A

Genetics is useful to understand what causes normal and abnormal development

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5
Q

What does Karyotype, CGH, and Next-generation Sequencing looking at?

A
  • Karyotype - full chromosome
  • CGH - Section of DNA missing
  • Next-generation Sequencing - Single Base Pair
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6
Q

What is the Telencephalon?

A

Another name for the Cortex or the outer part of the brain

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7
Q

What is the Rhombencephalon?

A

The Brainstem

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8
Q

What are the three parts of the Brainstem?

A
  • Medulla oblongata
  • Pons
  • Diencephalon
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9
Q

What is Gastrulation?

A

The formation of 3 layers of cells

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10
Q

What are the three layers of cells?

A
  • Endoderm
  • Mesoderm
  • Ectoderm (neuron, skin)
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11
Q

What does the Ectoderm end up forming?

A

Neurons and skin

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12
Q

What is Neuralation?

A

The formation of the neural tube from a flat layer of ectodermal cells

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13
Q

Which layer of cells undergoes Neurulation?

A

The ectodermal cells

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14
Q

What is the Sonic Hedgehog Gene?

A

A gene that is expressed in many steps of brain development

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15
Q

Which cells begin to express the SHH?

A

The notochord

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16
Q

What does the notochord expressing sonic the hedgehog do?

A

Causes expression of the SHH in the floor plate

17
Q

What genes are secreted from the ectoderm?

18
Q

Which genes are expressed dorsally and ventrally in Neuralation?

A

TGF and BMP are expressed dorsally. SHH is expressed ventrally

19
Q

Which part of the neural tube closes first?

A

The Anterior pore followed by the posterior pore

20
Q

What causes Anencephaly?

A

Defect of the anterior neuropore closure

21
Q

What causes Spinabifiida?

A

Failure of closure of the posterior pore

22
Q

Which pore not closing will patients survive?

A

Failure of closure of the posterior pore

23
Q

What does the anterior part of the neural tube do?

A

Splits into two prosencephalic vesicles

24
Q

What occurs during Prosencephalic development?

A

The splitting of the neural tube

25
What is Holoprosencephaly?
The failure of cleavage of the two hemispheres
26
Which gene is involved in the Holoprosencephaly?
The sonic the hedgehog gene
27
What is Mobius Syndrome?
Congenital partial or complete facial diplegia
28
What is the cause of möbius syndrome?
Hoxb-1 and Hoxb-4 genes
29
What occurs in Neuronal Proliferation?
Making the hemispheres bigger
30
What is hemi-megalencephaly?
A hemisphere is bigger than another one
31
How many layers in the human cortex?
Six
32
What occurs in neuronal migration?
The neurons are born in the center periventricular zone and migrates out of progenitor glial cells
33
What is Periventricular Nodular Heteropia?
When neurons don't migrate outward properly
34
What is the functions of the bumps on the brain?
Allows the brain to pack more tissue