Progeria is a rare condition that can be fatal. It is also a sporadic disorder, that is recognized as being an autosomal dominant syndrome that includes premature aging. Most of the time, people with this condition do not live long. In fact, research shows that those with this condition die at 13. This is because of what is called myocardial infarction or even a stroke (Alves, et al., 2014). Research shows that the genetic foundation of most circumstances of this disorder is a modification of the lamin A (LMNA) gene. This genetic factor triggers a cryptic splice to create abnormal lamin. This type of gene disrupts the nuclear membrane while at the same time changing transcription.
HGPS mostly triggered by a mutation in the gene known as the LMNA (Gonzalo & Kreienkamp, 2015). The LMNA gene give off the lamin A protein. This is considered to the structural scaffolding. This is what combines the core of a cell simultaneously. The asymmetrical lamin A protein that instigates Progeria is recognized as progerin (Mantagos, Kleinman, Kieran, & Gordon, 2017). Progerin is what is the nucleus that is unstable. That cellular unpredictability leads to the procedure of early aging and illness in Progeria.
The LMNA gene offers instructions for making more than a few slightly dissimilar proteins called lamins (Mantagos, Kleinman, Kieran, & Gordon, 2017). The two key proteins fashioned from this gene, lamin C and lamin A, are produced in most of the cells in the body’s. These proteins are comprised of a nearly identical order of protein building blocks known as the (amino acids). However, the minor variance in the sequence causes lamin A lengthier than lamin C.
The outcomes of the first-time clinical drug trial for children that have Progeria have come in. Lonafarnib, a kind of farnesyltransferase inhibitor (FTI) initially proven to handle cancer, has established to be successful for Progeria. However, the treatment does cause weight gain. A first time ever clinical drug trial then started in 2009, and in 2014 the analysis outcomes were printed, explaining that every child experienced development in one or additional areas, as well as the very important cardiovascular system. However, in July 2015, further study showed lonafarnib improves projected lifespan by at any rate 1.7years (Mantagos, Kleinman, Kieran, & Gordon, 2017).
The precise root of progeria is mysterious, even though a hereditary element may be a reason. Children born with this condition naturally seem regular at birth. However, within a year they start to show the looks of growing older that becomes accelerated. Distinctive facial characteristics contain micrognathia known as small jaw, and then there is what doctors call craniofacial imbalance. Also, as time goes on, they start to experience alopecia which is the loss of hair, and protuberant eyes and veins in the scalp. A lot of the times, children experience growth delayed. This means they are short and many of them have low weight. Because of a lack of hypodermic fat, skin starts to show up as wrinkled and before long, they start to look very aged.
Other key abnormalities include delayed dentition. This is when they have a thin and high-pitched voice. Usually, they also have a pyriform (pear-shaped) thorax, and what is recognized as a ‘horse riding’ stance. However, as they start to grow up, the disorder causes kids to age about every single 10 years for each year of their own life. What this is saying is that by the time they reach the age of 10, a kid would have the identical cardiovascular, arthritic, and respiratory preconditions as a person that is a senior citizen. Typically, death happens when they turn 13years old.
The likelihood of having a child with Progeria is around 1 in 3 – 7 million (Mantagos, Kleinman, Kieran, & Gordon, 2017). That is saying that there are around 300-350 individuals diagnosed with Progeria in the world at any occasion (Gonzalo & Kreienkamp, 2015). There is one certain case which is known as the Sam G. Berns case. This involves a child that was among that small amount diagnosed with this disorder. However, he passed away not too long ago, on January 14th, 2014, from problems of Progeria when he was just seventeen years old. Sam was a brainy junior who went to Foxboro High School in Foxboro, Massachusetts. When he was seventeen years old, he had the body of a person that was 130-year-old man. Progeria does not influence a universal number of individuals; nevertheless, it still has an impact on the victim and their family members.
This illness is an ill-fated one that possibly will happen in two types, either Hutchison-Gilford Progeria or Werner condition (Mantagos, Kleinman, Kieran, & Gordon, 2017). Not only do they influence the structure of the bone and development of the child, nevertheless, they considerably curtail their life spans. Children with Progeria typically look as if they are normal at birth, nevertheless by 1 years old the signs and symptoms of Progeria start setting in. The most widespread reason of death is heart ailment (Alves, et al., 2014). As any ageing person suffering from heart disease, the child could experience high blood pressure, chest pain because of inadequate movement of blood to the heart, inflamed heart and failure of the heart.
As stated by the Progeria Research Foundation, the sickness never touches parent carriers of the DNA segment mutation (Gonzalo & Kreienkamp, 2015). Scientific explanations disclose that the genetic alteration is current in nearly all occurrences, but, it happens where the sperm cell is on its way to undergo outset.
References
Alves, D. B., Silva, J. M., Menezes, T. O., Cavaleiro, R. S., Tuji, F. M., Lopes, M. A., . . . Coletta, R. D. (2014). Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report. World Journal of Clinical Cases, 2(3), 67-71.
Gonzalo, S., & Kreienkamp, R. (2015). DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome. Current Opinion in Cell Biology, 34, 75-83.
Mantagos, I. S., Kleinman, M. E., Kieran, M. W., & Gordon, L. B. (2017). Ophthalmologic Features of Progeria. American Journal of Ophthalmology, 182(0), 126-132.
