Last night, as I was nursing my severely battered urinary
tract with lemon tea on the couch instead of red wine in a restaurant, I was
sucked into “20/20: My Strange Affliction” on ABC. While clearly a rip off of TLC’s “My Strange
Addiction,” I still watched. C’mon – one
woman counted her 123 cats. I was
horrified. Luckily, a far better program
followed: Barbara Walter’s Special “Seven Going on 70.” There, I was introduced to Lindsay
Ratcliffe.
She
was, quite frankly, amazing. The first
grader from Flat Rock, Michigan was diagnosed at 4 months old with
Hutchinson-Gilford Progeria Syndrome (progeria).
Her parents, Joe and Kristy, encourage her to live life to the fullest. Watching the wee girl play T-ball and run in
an impossibly large batting helmet on her tiny bald head tugged at my heart
strings. When interviewed, she was
smiling, talkative, and full of happiness.
Check out the links at the bottom of this post – you will just want to
give her a giant hug. Or, just look at her picture!
The
reason I was so taken with her is because she and her family face a tough road:
average life expectancy of those diagnosed with progeria is 13. The disease causes the body to age eight times
faster than the rest of us. This leaves
small Lindsay with stiff joints, small stature, loss of body fat and hair, as
well as aged internal organs making her susceptible to diseases of the elderly:
heart disease or stroke.
68
cases of progeria are known worldwide making this disease incredibly rare. For every 4 – 8 million children born, one will develop progeria.
While
this disease is not hereditary, it is caused by a mutation in one gene:
LMNA. This gene encodes for the protein
Lamin A, which is responsible for the structural integrity of a cell’s
nucleus. The mutated Lamin A protein is
shorter, doesn’t function properly and has been given the name progerin. (Lost? Need a
review of cells, genes, and proteins?
Check out my Central Dogma post!)
A quick
look at the “What’s New in Progeria Research” page on www.progeriaresearch.com, shows that
the actual changes within cells harboring this mutation are more complex than “oh,
my nuclei are unstable.” For example, a 2011 paper published in the Journal of Clinical Investigation showed that
progerin is produced in small amounts by all healthy cells (those in you, me, and those in patients with progeria) and their levels increase
with age. Researchers feel that studying
progeria and progerin will not only teach us more about this rare disease but
also about the normal aging process.
Aging
is a hot button topic these days in science research. Caloric restriction, resveratrol (see The GreatSirtuin Debate on Dr. Amedeo) and now progerin are pushing the boundaries
of what we understand about aging. This
will continue to be an evolving and interesting field in the years to come.
Here is some info about a fund raiser held by Lindsay's parents on May 12th called Miles for Miracles: LINK
Here is some info about a fund raiser held by Lindsay's parents on May 12th called Miles for Miracles: LINK
REFERENCES
Barbara Walter’s
Special: http://abcnews.go.com/2020/barbara-walters-progeria-special-young-girls-living-progeria/story?id=11586041#.T10oqfUSHFk
About Lindsay
Ratcliffe:
Progerin Research in
Journal of Clinical Investigation: Cao et al. “Progerin and telomere
dysfunction collaborate to trigger cellular senescence in normal human
fibroblases.” (2011) JCI 121(7), pgs 2833 – 2844.
Progeria Research: www.progeriaresearch.com
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