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Hutchinson Gilford Progeria Syndrome

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vanessa baker

on 26 May 2014

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Transcript of Hutchinson Gilford Progeria Syndrome

Cause of Mutation
There are many things that can cause mutations but in HGPS humans it is spontaneous. Spontaneous mutations are mutations where the error occurs during replication. This gene is autosomal dominant, it means you only need to get the abnormal gene from one parent in order for you to inherit the disease.

Mutations
Hutchinson Gilford Progeria Syndrome
Type of Mutation
HGPS is a point mutation in the Lmna gene. Lmna encodes for lamin A and C. Lamin A is important for the structural components of the nuclear envelope.

Point Mutation
There are three types of point mutations substitutions, insertions and deletions. In HGPS the point mutation is a substitution , where a C is changed to a T.

Where is it Occurring on a Genetic Level?
The Lmna gene is located on codon 608. The mutation changes the C to a T on chromosome one, between position 21.2 and 21.3.

Where is it Occurring in the body?
Well since the structure of the nuclear envelope is obstructed the mutation occurs in all the cells in the body.

Normal vs. Mutation
HGPS does not disrupt intellect or motor skills. What HGPS does is it causes growth failure, loss of body fat and hair, stiff joints, and heart disease.

Diagnostic
Although there is a early diagnostic testing program that tests a child's blood for the gene mutation in the Lmna gene, accelerated aging doesn't begin to show until 18 to 24 moths.

Symptoms
Is there Treatment?
This mutation has no treatment but rather management. Children with HGPS only usually live 13 to 20 years.
Management drugs can be a farnesyltransferase inhibitor (FTI), aspirin and/or other blood thinners.
Making the child comfortable is a big role in management. This can be achieved by joint therapy, chiropractic care, massage therapy, ect.

Family Concerns?
HGPS is a fatal disease, therefore the family of a child with HGPS has to deal with the fact that their child is going to die and that towards the end of their life their child will be in pain almost every day. Its up to the family to be positive and make the child as comfortable as possible.

Scientific Research
http://www.progeriaresearch.org/progeria_101.html

The most severe form of Progeria is Hutchinson-Gilford progeria syndrome, recognizing the efforts of Dr. Jonathan Hutchinson, who first described the disease in 1886, and Dr. Hastings Gilford who did the same in 1904. The cause of the mutation was not found until 2003 by the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan.
Interesting Facts
The condition derives its name from "geras," the Greek word for old age
estimated to affect one in 4 million newborns worldwide
As newborns, children with progeria usually appear normal
It is the substitution of just one base pair among the approximately 25,000 DNA base pairs that make up the LMNA gene.
There are an estimated 200-250 children living with Progeria worldwide at any one time
It affects both sexes equally and all races
Since The Progeria Research Foundation was created in 1999, we have discovered children with Progeria living in over 40 countries
Bonus
The mutation seen in this disease is a point mutation at codon 608 in exon 11. It changes cytosine to thymine. Therefore the splice site is activated in Exon 11. This leads to the synthesis of abnormal Lamin A protein which is known as Progerin.

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