Genetics - Predisposition to Adult Disease Flashcards

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1
Q

Why are adults referred to clinical genetics?

A
Diagnosis of disease
Predictive testing
Cascade screening
Family history 
Fetal loss/miscarriages
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2
Q

What are the main mechanisms of adult onset genetic disease?

A
Single gene
Chromosomal
Mitochondrial
Multifactorial
Environment
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3
Q

What are the main ethical principles of medicine?

A

Respect for autonomy
Beneficence
Non-maleficence
Justice

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4
Q

What are the requirements of Predictive testing?

A

Test information must be usable for prevention/treatment
Information on test uncertainty
Proper counselling
Children only tested if there are benefits
Third parties have no access

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5
Q

What is the familial connection for Motor neurone disease?

A

5-10% familial

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6
Q

What is the mean age of onset for ALS?

A

55yrs

younger in familial forms

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7
Q

What are the clinical features of ALS?

A
Progressive muscle weakness/wasting
Increased reflexes
Limb/bulbar muscle involvement
Motor signs 
Fasciculations
Cognition spared
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8
Q

What is the most common cause of death in ALS?

A

Respiratory failure

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9
Q

What is the pathophysiology of ALS?

A

Cu/Zu superoxide dismutase

Excess of enzyme in motor neurones

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10
Q

What are the forms of SOD seen in humans? And where are they located?

A

SOD1 (cytoplasm)
SOD2 (mitochondria)
SOD3 (extracellular)

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11
Q

SOD1/3 contains what?

A

Copper, Zinc

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12
Q

SOD2 contains what?

A

Manganese

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13
Q

The genes for SOD are contained on which chromosomes?

A

21, 6, 4

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14
Q

What is the role of SOD?

A

Protect cells from free radical/ischaemic damage and progressive cell degradation

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15
Q

What mutation is seen in Huntington’s disease?

A

CAG expansion

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16
Q

What are the clinical features of Huntington’s disease?

A

Chorea, Athetosis, myoclonus, rigity
Cognitive changes - planning, executive funtion
Personality change
Depression, paranoia

17
Q

When does Huntington’s disease typically onset?

A

30s/40s

18
Q

What are the benefits of predictive testing in Huntington’s disease?

A

Future risk in offspring/self
Make plans
Arrange surveillance
Genetic counselling

19
Q

What are the disadvantages of predictive testing in Huntington’s disease?

A

Loss of hope, certainty
Know of risk to offspring
Impact on self/others
Insurance/mortgage issues