Young at Heart
This week I will introduce a very rare mutation that can be quite sad when you think about it. This mutation I will be talking about is called progeria.
Hutchinson-Gilford Progeria is a very rare and severe disease that causes accelerated aging. It affects children and unfortunately, the affected only live to be approximately between thirteen and twenty years old. The cause of the mutation is linked to the LMNA gene, a gene that provides instructions for making several different proteins called lamins. These lamins lead to the production of a protein that provides support to the cell nucleus. When the mutation occurs, these proteins are damaged but they are still being used by the cells. When the cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.
Most babies who have progeria will not show symptoms at birth, but they will slowly start to show symptoms throughout their first year of life. Babies diagnosed with progeria do not grow or gain weight like children who are undiagnosed. Some physical traits of children with progeria include a larger than normal head, large eyes, a small lower jaw, visible veins, hair loss, and slow or abnormal tooth growth.
Most children who have progeria unfortunately die of age-related diseases around the age of 13, typically caused by a heart attack or stroke. Odd enough, this mutation does not effect the child's brain development or immune system. The children diagnosed with progeria are not more likely to get infections than other kids and they can learn at the same rate as any other child. This mutation is so rare is only affect as one child per eight million live births. At this time, there is no cure for progeria, but some researchers are working with a certain cancer drug to possibly fix the damaged cells. There are ways to make a child's life more comfortable while they manage their progeria and there treatments include medication to help manage their chances of heart attacks and physical therapy to keep their joints from stiffening. Constant hydration and staying active while at home and at school can help the child as well. The parents play a huge role in the child's overall comfort and survival, but until a cure is found the child's fate remains sealed.
https://www.webmd.com/children/progeria#2
https://www.genome.gov/11007255/
http://www.rightdiagnosis.com/p/progeria/intro.htm
Hutchinson-Gilford Progeria is a very rare and severe disease that causes accelerated aging. It affects children and unfortunately, the affected only live to be approximately between thirteen and twenty years old. The cause of the mutation is linked to the LMNA gene, a gene that provides instructions for making several different proteins called lamins. These lamins lead to the production of a protein that provides support to the cell nucleus. When the mutation occurs, these proteins are damaged but they are still being used by the cells. When the cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.
Most babies who have progeria will not show symptoms at birth, but they will slowly start to show symptoms throughout their first year of life. Babies diagnosed with progeria do not grow or gain weight like children who are undiagnosed. Some physical traits of children with progeria include a larger than normal head, large eyes, a small lower jaw, visible veins, hair loss, and slow or abnormal tooth growth.
Most children who have progeria unfortunately die of age-related diseases around the age of 13, typically caused by a heart attack or stroke. Odd enough, this mutation does not effect the child's brain development or immune system. The children diagnosed with progeria are not more likely to get infections than other kids and they can learn at the same rate as any other child. This mutation is so rare is only affect as one child per eight million live births. At this time, there is no cure for progeria, but some researchers are working with a certain cancer drug to possibly fix the damaged cells. There are ways to make a child's life more comfortable while they manage their progeria and there treatments include medication to help manage their chances of heart attacks and physical therapy to keep their joints from stiffening. Constant hydration and staying active while at home and at school can help the child as well. The parents play a huge role in the child's overall comfort and survival, but until a cure is found the child's fate remains sealed.
https://www.webmd.com/children/progeria#2
https://www.genome.gov/11007255/
http://www.rightdiagnosis.com/p/progeria/intro.htm
I remember learning about this in genetics. We did not go into much detail like you have here. Great job, I learned a lot from your blog!
ReplyDeleteAny time I hear about this I think of the " Curious case of Benjamin Button" I know its like the exact opposite but it's a connection I make nonetheless. I feel like research that is being done to cure age related illnesses may also help these children as well. It will be interesting to see if the research in that field will be used in this area in the future. Great blog!
ReplyDeleteInformative post! It always tugs at my heart when I learn about diseases that affect babies and children leading to a highly impaired life and/or early death. It is devastating for everyone involved. The thing that gives hope is the amazing work being made in gene editing and figuring out how to counteract or cure genetic diseases at the nucleic acid level. After taking introductory genetics, my eyes were opened to how incredibly complex the gene expression is despite seeming quite simple at first glance. There are so many interactions going on with transposons and epigenetic interactions among a host of other things which ultimately tightly regulate gene expression. It is amazing the discoveries researchers are making regarding these meticulate molecular functions at the genetic level. Hopefully soon they will begin to fine tune gene editing in humans and begin to alter the course for those with diseases and syndromes such as Progeria.
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