Hutchinson-Gilford Progeria syndrome
For our Developmental Biology class, we are required to write a research paper about a disease relating to this subject. It was quite difficult to decide upon which disease to investigate further into as they all seemed interesting, then I came across page 572 of our text book – Developmental Biology by Scott F. Gilbert. I saw an image that made me wonder how that individual came to be in that state. So I looked into a genetic disorder known as Hutchinson-Gilford Progeria syndrome and found a video (http://www.youtube.com/watch?v=Yw0pNwqYv1g) that was emotional and eye-opening - especially at 2 minutes into the video. And 3:30 minutes into the video, a 14-year old girl – Ashley Hegi suffering from Hutchinson-Gilford Progeria speaks about her illness, truly an inspirational, brave, little girl. This inspired me to research further into this disorder.So what is Hutchinson-Gilford Progeria syndrome? It is a genetic condition where the individual has a rapid aging process that occurs in the beginning of childhood. Their life span on average is very short – dying as early as 13 years old, however they may live to be 30 years old. They die early due to stroke or progressive artherosclerosis. The children affected with this disease appear normal at birth and early infancy however an early sign of Progeria is their skin becoming tougher (due to connective tissue hardening). Distinguishing facial appearance arises in this disorder, including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. They also experience alopecia (hair loss), joint abnormalities, aged-looking skin, loss of the subcutaneous fat (which is under the skin). However, this syndrome does not affect their intellectual development or motor skills (walking, standing, sitting etc.).
The cause of Progeria is due to a mutation in the LMNA gene which encodes for the production of lamin proteins. Lamin proteins are required to support the nuclear membrane – helping maintain the shape of the nucleus. Without these proteins, it renders the nuclear envelope unstable hence resulting with the cells dying prematurely.
The sad fact is that there is no current cure for Progeria. However, treatment can be offered to suppress symptoms, for example low-dose of aspirin to prevent heart attacks and strokes, physical therapy to aid the joint stiffness, high calorie dietary supplements would help prevent weight loss.
References:
"Hutchinson-Gilford Progeria Syndrome." Genetics Home Reference. 2007. Web. Sept. 2010. <http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome>.
"Progeria." Google Health. 2010. Web. Sept. 2010. <https://health.google.com/health/ref/Progeria>.
"Progeria: Treatments and Drugs - MayoClinic.com." Mayo Clinic. 2010. Web. Sept. 2010. <http://www.mayoclinic.com/health/progeria/DS00936/DSECTION=treatments-and-drugs>.
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Mermaid Syndrome
Everyone loves the inquisitive Ariel from Walt Disney’s The Little Mermaid – as children growing up watching and probably questioning the existence of these mythical creatures. What we were not aware of was that there is a fatal, rare congenital disease that occurs only 1 in 70,000 births that causes newborn’s legs to fuse together which gives an appearance of a mermaid’s tail. This disorder is known as Mermaid Syndrome - also known as Sirenomelia.
The severity of this syndrome varies. The mild mermaid syndrome is when the two limbs of the baby are fused into one, however only superficially – limited in the skin. Hence this condition can be repaired by a mere surgery. But in the case of severe mermaid syndrome, the fusion is deeper, causing major structures – e.g. blood vessels – to be shared by the fused legs. Other than fused legs, the baby would suffer from deformed or absence of kidneys, a colon with no anus, small, fused pelvic bones, poorly formed or absence of genetilia, underdeveloped lungs, spinal deformations, heart issues. As is it evidently shown, many, many complications arise from this single disorder which leads to a very low survival rate.
The cause for this disorder is not really specified as this is a very rare case however few assumptions have been made. It could be due to abnormalities in the umbilical cord blood vessels. In normal umbilical cords, there are two umbilical arteries and one umbilical vein, but with a baby afflicted with mermaid syndrome, they have only one umbilical blood vessel – and sometimes two. Also genetics and environmental factors could contribute to this disorder. This could include excessive radiation exposure, inadequate prenatal care, during pregnancy the mother may have suffered a serious illness or extreme mental stress.
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1 - Legs are fused together by skin and feet splayed in a V-shape 2 - Saline sacks inserted and gradually filled to stretch the skin 3 - Two operations, three months apart, separate the legs, using the stretched skin to cover the wounds 4 - A later operation will rotate splayed feet forward |
References:
Nair, Sonia. "Mermaid Syndrome." Buzzle Web Portal. 2010. Web. Oct. 2010. <http://www.buzzle.com/articles/mermaid-syndrome.html>.
Khan, Sumaiya. "Mermaid Syndrome Causes." Buzzle Web Portal. 2010. Web. Oct. 2010. <http://www.buzzle.com/articles/mermaid-syndrome-causes.html>.
"'Mermaid Girl' to Have Legs Split." BBC News. 2005. Web. Oct. 2010. <http://news.bbc.co.uk/2/hi/health/4235033.stm>.
