New insight into 'accelerated aging' disease

Sep 13, 2010

Hutchinson-Gilford Progeria Syndrome (HGPS or progeria) is a rare genetic disease that causes young children to develop symptoms associated with advanced age, such as baldness, wrinkles, osteoporosis and cardiovascular disease. Now, a study published by Cell Press in the September 14th issue of the journal Developmental Cell uses a mouse model to shed light on progeria, and perhaps also on the normal aging process.

Progeria is caused by a mutation in the gene for lamin A that leads to production of "progerin", a truncated form of the lamin A protein that causes the to become misshapen. "How progerin causes progeria and whether it contributes to the normal aging process are areas of intense speculation," says senior study author, Dr. Colin L. Stewart from the Institute of Medical Biology in Singapore.

Dr. Stewart and colleagues had previously developed a for progeria. In the current study, they showed that the mutation associated with their mouse model produces a progerin-like truncation of lamin A and causes post-natal connective tissue cells to stop producing an extracellular matrix. The lack of this surrounding matrix then causes the cells to stop dividing and to die. However, the researchers did not see the same effects when they studied . This difference between pre-natal and post-natal effects on cell behavior in the is significant because children with progeria appear normal at birth but develop signs of accelerated aging soon after, often dying from heart disease while they are still in their teens.

The researchers go on to show that the defects in the extracellular matrix in mouse and human progeria cells are due to abnormalities in a protein network called the . "Our results provide support for the hypothesis that progeria is a disease of the connective tissue which manifests as abnormalities in the skeleton, teeth, skin and vasculature," concludes Dr. Stewart. "If these failures are due to defective Wnt signaling and/or cytoskeletal-extracellular matrix function, they suggest possible new routes of intervention that may help in treating this disease."

As there is also evidence for defective lamin production in the vascular system during the normal aging process, the researchers are keen to explore potential implications of their new findings in these and other aspects of both progeria and normal aging.

Explore further: New compounds protect nervous system from the structural damage of MS

add to favorites email to friend print save as pdf

Related Stories

Lamin B locks up Oct-1

Jan 12, 2009

A large fraction of the transcription factor Oct-1 is associated with the inner nuclear envelope, but how and why it is retained there was unknown.

Recommended for you

Mystery of the reverse-wired eyeball solved

Feb 27, 2015

From a practical standpoint, the wiring of the human eye - a product of our evolutionary baggage - doesn't make a lot of sense. In vertebrates, photoreceptors are located behind the neurons in the back of the eye - resulting ...

Neurons controlling appetite made from skin cells

Feb 27, 2015

Researchers have for the first time successfully converted adult human skin cells into neurons of the type that regulate appetite, providing a patient-specific model for studying the neurophysiology of weight ...

Quality control for adult stem cell treatment

Feb 27, 2015

A team of European researchers has devised a strategy to ensure that adult epidermal stem cells are safe before they are used as treatments for patients. The approach involves a clonal strategy where stem cells are collected ...

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.