Genetics in Ageing and Health Flashcards

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1
Q

What is ageing?

A

Progressive loss of function accompanied by decreasing fertility and increasing mortality with advancing age.

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2
Q

What is the main mechanism behind ageing?

A

Accumulation of damage due to free radical and oxidative stress.

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3
Q

Why is understanding chronic disease so important?

A

Chronic diseases are the major cause of death and disability in the world – estimated at around 70%

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4
Q

What is the major risk factor for chronic disease?

A

Age

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5
Q

What suggests there are genes for ageing?

A

Diversity in longevity between species.

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6
Q

Is ageing programmed?

A

NO

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7
Q

Why is there a limit on lifespan?

A

Extrinsic mortality

Genes are selected to ensure survival for expected lifespan and no more

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8
Q

What is the selection shadow theory?

A

Late-acting deleterious mutations may accumulate due to being advantageous at a younger age.

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9
Q

What are genes with age pleiotropy?

A

Selection will tend to advance good and postpone bad effects

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10
Q

What is the disposable soma theory of ageing?

A

Differences in longevity between species can be explained by different levels of resource allocation to maintenance.

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11
Q

What happens when you reduce insulin like signalling?

A

Enhances survival is associated with longevity.

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12
Q

What is the caloric restriction evidence for plasticity in ageing?

A

Causes a delay in age-related disease due to a cellular stress response but a reduction in fertility.

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13
Q

What is the twin evidence for a genetic contribution to ageing?

A

Comparing the longevities of mono- and di-zygotic twins suggests that genes explain 25% of the variability in longevity.

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14
Q

What are progeroid syndromes?

A

Single gene mutations but affect multiple areas.

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15
Q

What kind of progeroid syndromes result from gene mutations
involved in DNA repair?

A

Werners

Blooms

Cockayne

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16
Q

What is WRN?

A

An autosomal recessive gene encodes a DNA helicase.

17
Q

What are the symptoms of damage to the WRN (Werner syndrome Helicase)?

A

Osteoporosis

Cataracts

Cardiovascular disease

Grey hair

18
Q

What is Hutchinson-Gilford caused by?

A

Caused by de novo autosomal dominant mutation in LMNA which encodes lamin A.

19
Q

What does the mutation in LMNA cause?

A

Irregular nuclear envelope?

20
Q

What are the symptoms of Hutchinson-Gilford?

A

Athersclerosis

Sarcopenia

Osteoporosis.

21
Q

What is NOT a symptom of WRN damage?

A

Neurodegeneration

Alzheimer’s disease

22
Q

What is NOT a symptom of Hutchinson-Gilford?

A

Dementias

Cancer

23
Q
A