I was reading a section in my Cell Bio book regarding lamins and premature aging

Question

I was reading a section in my Cell Bio book regarding lamins and premature aging. While the disease is rare, it seems to be one that makes a large impact on developmental science and medicine. The book mentions that the symptoms for this disease are caused by a mutation in the LMNA gene, resulting in the protein staying in the nuclear membrane instead of the lamina.

My question is, how do the cells of those affected with this disease compare to normally aging individuals? Do older adults experience similar mutations of the LMNA genes as those affected by the disease? Also, what exactly would a treatment target and how does the localization of progerin cause the disease symptoms?

Explanation / Answer

ANSWER: Hutchinson-Gilford progeria syndrome

HGPS is an accelerated aging disease typically caused by a de novo mutation leading to autosomal dominant single base substitution in the Lamin A gene.

Cells of those affected with this disease compare to normally aging individuals:

Scientists used GeroScopeTM to analyze and compare microarray datasets from replicatively senescent cell lines, cohorts of normally-aging individuals and individuals with HGPS.

Do older adults experience similar mutations of the LMNA genes as those affected by the disease?

Analysis of 65 major cellular signaling pathways revealed that signaling pathway activation states in fibroblasts derived from chronologically young HGPS patients strongly resemble those taken from normal middle-aged and old individuals.

The localization of progerin cause the disease symptoms:

Progerin builds up over a lifetime and may be partly responsible for aspects of aging such as atherosclerosis. Progerin is also linked to telomere dysfunction. Telomeres are proteins that play a major role in cellular aging.

Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, the leading cause of death worldwide. Thus, there is clearly a tremendous need for research in Progeria.

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