Carla - Receptors and Disease Flashcards

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1
Q

Give some ways cell communication can go wrong
(3)

A

Cell fails to send out a signal at the proper time

A signal doesn’t reach its target

A target cell does not respond to a signal or a cell responds even though it hasn’t received a signal

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2
Q

Give an example of a disease caused be a lose of a signal

A

Type 1 diabetes

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3
Q

Give an example of a disease caused a signal not being able to reach it’s target

A

Multiple sclerosis

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4
Q

Give an example of a disease caused by a target ignoring a signal

A

Type 2 diabetes

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5
Q

Give an example of a disease caused by multiple breakdowns in signalling

A

Cancers

Strokes

Alzheimers

Chronic and complex diseases

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6
Q

What are the two types of receptor linked diseases?

A

Congenital

Acquried

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7
Q

What are the two types of receptor linked diseases?

A

Congenital

Acquired

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8
Q

What causes familial hypercholesteremia

A

A defect in an LDL receptor

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9
Q

What is familial hypercholesteremia (FH)

A

Significantly elevated low-density lipoprotein cholesterol

Early onset

20x higher risk of coronary artery disease

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10
Q

Give an example of a congenital receptor disease

A

Myasthenia gravis

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11
Q

What is myasthenia gravis?

A

A disease of the postsynaptic neuromuscular junction (NMJ) where nicotinic acetylcholine (ACh) receptors (ACHRs) are targeted by antibodies

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12
Q

What are the symptoms of myasthenia gravis?

A

Weakness and rapid fatigue of any of the muscles under voluntary control

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13
Q

In general what happens to the receptor in myasthenia gravis?

A

Loss of receptor function - the message is not heard

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14
Q

What do practitioners have to consider when working with myasthenia gravis patients?

A

They are extremely sensitive to anaesthetic

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15
Q

What happens in acquired receptor disease?

A

Good receptors turn bad

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16
Q

Give an example of a receptor that can be affected by acquired receptor diseases?

A

Receptor tyrosine kinases

17
Q

What different alterations can be made to receptor tyrosine kinases?
(3)

A

Amplification

Overexpression

Somatic mutation resulting in increased receptor signalling

18
Q

List some diseases caused by RTK mutations

A

Dwarfism

Craniosynostosis

Heritable cancer susceptibility

Venous malformation

Piebaldism

19
Q

What happens when there is a gain of function mutation of a receptor tyrosine kinase?

A

Result in constitutive receptor activation

20
Q

What happens when there is a loss of function mutation of a receptor tyrosine kinase?

A

Result in non-functional or dominant negative receptors

21
Q

Write a note on receptors in oncogenesis

A

Cancer often caused by receptors involved in growth, proliferation and differentiation

e.g. breast cancer can have receptors which are hormone-positive

22
Q

What are the three types of hormone positive breast cancer?

A

ER positive
PR positive
HER2 positive

23
Q

Write a note on ER and PR positive breast cancer

A

The estrogen receptor is a regulator of cellular growth, proliferation and differentiation

Its an intracellular receptor

ER protein is expressed in 70-80% of breast cancer

=> cancer cells grow in response to estrogen

Approx 65 are also PR-positive -> these grow in response progesterone as well

24
Q

What is HER2?

A

Human epidermal growth factor receptor 2 (RTK)

A gene that makes a protein found on the surface of all breast cells

It is involved in normal cell growth

25
Q

Write a note on HER2 positive breast cancer
(3)

A

account for 20% of breast cancer

The cells make too much HER2 protein

Cancer is aggressive and fast-growing

26
Q

How can receptors act as biomarkers

A

The presence or absence of receptors can be used to detect and predict the outcomes of cancer