Progeria, the name of a daunting rare and fatal disease can also be referred to more specifically as Hutchinson-Gilford Progeria Syndrome, or the acronym of this term, HGPS (Chara, 2002; Guang-Hui et al., 2011; Gruenbaum, 2009). Progeria originates from the Greek word “geras” which means “old age” (Gulli & Mallory, 2002). The prefix “pro-” means to advance forward so the combination of these two terms create the meaning “prematurely old” (Wynbrandt & Ludman, 2000). Dr. Hastings Gilford is credited with coining the name in 1904, combining his and Dr. Jonathan Hutchinson’s names. (Gulli & Mallory, 2002; Wynbrandt & Ludman, 2000).
Dr. Hutchinson, in 1886, and Dr. Gilford, in 1897, are the first scientists known to study Progeria. Both the men …show more content…
(Gruenbaum, 2009) The exact etiology of Progeria is unknown, but it is thought to be affected by more than one biological factor (Agarwal et al., 2010; Wynbrandt & Ludman, 2000). Progeria is classified as a laminopathy along with 10 other genetic disorders caused by a mutation on the LMNA gene (Burtner; Reunert et. al, 2012; Rodriguez et al., 2009). The genetic cause of Progeria is a mutation on the LMNA gene located on Chromosome 1 (Gulli & Mallory, 2002; Reunert et. al, 2012). Specifically differentiating Progeria from other laminopathies is that the mutation is located on exon 11. The LMNA gene encodes for A-type Lamins which are the inner nuclear lamina involved in maintenance of the nuclear shape and structure, DNA replication and gene expression (Burtner, Gruenbaum, 2009; Rodriguez et al., 2009). Lamin A is a key factor of a matrix of proteins that are located in the cell’s nuclear membrane (Travis, …show more content…
Progeria is believed to happen at conception as a result of genetics and the environment. An autosomal new mutation takes place in parental DNA within the egg or sperm. The new mutation changes the structure of the gene permanently. It is autosomal dominant because the mutation only has to occur in one of the parents to affect the offspring with the genetic disorder (Burtner; Gulli & Mallory, 2002; Wynbrandt & Ludman, 2000). Additionally, there is a correlation observed that increased paternal age could cause a potential increase in a mutative effect (Wynbrandt & Ludman,
Dr. Hutchinson, in 1886, and Dr. Gilford, in 1897, are the first scientists known to study Progeria. Both the men …show more content…
(Gruenbaum, 2009) The exact etiology of Progeria is unknown, but it is thought to be affected by more than one biological factor (Agarwal et al., 2010; Wynbrandt & Ludman, 2000). Progeria is classified as a laminopathy along with 10 other genetic disorders caused by a mutation on the LMNA gene (Burtner; Reunert et. al, 2012; Rodriguez et al., 2009). The genetic cause of Progeria is a mutation on the LMNA gene located on Chromosome 1 (Gulli & Mallory, 2002; Reunert et. al, 2012). Specifically differentiating Progeria from other laminopathies is that the mutation is located on exon 11. The LMNA gene encodes for A-type Lamins which are the inner nuclear lamina involved in maintenance of the nuclear shape and structure, DNA replication and gene expression (Burtner, Gruenbaum, 2009; Rodriguez et al., 2009). Lamin A is a key factor of a matrix of proteins that are located in the cell’s nuclear membrane (Travis, …show more content…
Progeria is believed to happen at conception as a result of genetics and the environment. An autosomal new mutation takes place in parental DNA within the egg or sperm. The new mutation changes the structure of the gene permanently. It is autosomal dominant because the mutation only has to occur in one of the parents to affect the offspring with the genetic disorder (Burtner; Gulli & Mallory, 2002; Wynbrandt & Ludman, 2000). Additionally, there is a correlation observed that increased paternal age could cause a potential increase in a mutative effect (Wynbrandt & Ludman,