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Dr. Andrew Rynne
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Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Causes Death In Hutchinson-Gilford Progeria Patient?

I know that Hutchinson-Gilford Progeria effects the cardiovascular system of the child. But what exactly causes the death? I know there's a defect in a mutated Lamin A gene, but what happens? Do the mutuated genes block or clot something vital thus causing a stroke?
Mon, 25 Aug 2014
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Pediatrician,  's  Response
Thanks for putting up your query at HealthCareMagic.

The LMNA gene produces the lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective lamin A protein makes the nucleus unstable. That cellular instability leads to the disease process in Progeria. Children with Progeria are genetically predisposed to premature, progressive heart disease. These patients have a short life expectancy with death occurring in adolescence, most times due to cardiovascular diseases. The main cause of death (in 75% cases) is cardiac or cerebrovascular abnormalities which include myocardial infarction and congestive heart failure due to premature atherosclerosis which occurs as a sign of ageing.

I hope that helps. Feel free to contact back in case of further queries.
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What Causes Death In Hutchinson-Gilford Progeria Patient?

Thanks for putting up your query at HealthCareMagic. The LMNA gene produces the lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective lamin A protein makes the nucleus unstable. That cellular instability leads to the disease process in Progeria. Children with Progeria are genetically predisposed to premature, progressive heart disease. These patients have a short life expectancy with death occurring in adolescence, most times due to cardiovascular diseases. The main cause of death (in 75% cases) is cardiac or cerebrovascular abnormalities which include myocardial infarction and congestive heart failure due to premature atherosclerosis which occurs as a sign of ageing. I hope that helps. Feel free to contact back in case of further queries.