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Case Study 3: Werner’s Syndrome a progeric disease. Cell Division Cell Cycle Aging. What mechanisms control the proliferation of cells?. What governs the life span of an organism?. Cell death as a necessary and important part of development:

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case study 3 werner s syndrome a progeric disease
Case Study 3: Werner’s Syndrome a progeric disease

Cell Division Cell Cycle Aging

What mechanisms control the proliferation of cells?

What governs the life span of an organism?

Cell death as a necessary and important part of development:

Apoptosis (programmed cell death)

context george martin 1978
Context: George Martin, 1978

‘Genetic Syndromes in Man with Potential Relevance

to the Pathology of Aging’

< 7000 genes: involved in degenerative processes associated with aging

Between 70 and 7 genes: control processes having large impact

on senescence

What is cell senescence?Divide certain # of times then enter G0 and eventually die

aging a multigene process

Appears

Birth

In 20’s

Helicase

Birth/1yr

??

Aging a multigene process

10 genetic diseases that mimic aging process—but only in part

Chromosomal aneuploides Down’s syndrome

Dementia, cataracts, diabetes, hair graying, cancer

Known single mutant geneWerner’s syndrome

Skin ‘thinning’, Hair graying and loss, atherosclerosis,

Cataracts, cancer diabetes, osteoporosis

Unknown but thought to be single gene

Hutchinson-Gilford’s Progeria

Skin ‘thinning’ hair loss, atherosclerosis, osteoporosis,

hypertension

werner s syndrome
Werner’s Syndrome

www.pathology.washington.edu/werner/

werner s history
Werner’s history

Named for C. W. Otto Werner (1879-1936)

Rural doctor, medical officer in German Navy WWI

Rare autosomal recessive disease

Approx 1 in 200 people carriers for defective gene

Approx 3 in 1,000,000 people have the disease

(Slightly higher percentage in Japan)

Onset of symptoms early to mid 20’s,

Major cause of death—heart attack in mid 40s

cells of progeria and ws

Fibroblasts

‘normal cells’ divide ~12 to 24 hours

Divide approx 50times in culture

Cells of Progeria and WS

Cell Culture

What do cells need to proliferate?

When compare fibroblasts of child with Progeria and their parent

Child’s cells are ‘older’ in terms of replication

Progeric Fibroblasts:

Rarely ever double

Few cell generations before death

Note: Often ‘Progeric’ used to describe any premature aging

as well as the disease Hutchinson Gilford Progeria

why do we age how how do we age
Why do we age?/How how do we age?

Short answer: Don’t know

The 3 R’s: Mutation effecting DNA reading, replicating or repair

Hypotheses for Aging:

Free Radical Theory: Aging due to accumulation of

damage from free radicals

Telomere Theory: Chromosome ends shorten with divisions

Cause of Werner’s syndrome

Helicase defect: Mutation Chromosome 8 in WRN gene

all 35 known mutations result in truncated protein

all ‘remove’ nuclear targeting sequence

different mut’s associated with different cancers

case study focuses
Case Study Focuses

Cell death: damage and apoptosis

Telomeres and replication

Cell Cycle and its regulation