A 5 year old looking like they are 30. A 10 year old looking like they are 60. This is what happens to the sufferers of Hutchinson-Gilford Progeria Syndrome (HPGS), more commonly known as Progeria.
It is simply one of the most intriguing ones that doctors around the world have ever seen.
We will go over its causes, symptoms, treatments, and some interesting facts for an already interesting disorder.
This disease is caused by a type of mutation called a point mutation. Point mutation is when one, and only one, DNA base is replaced with another DNA base.
This disease is caused by a type of mutation called a point mutation. Point mutation is when one, and only one, DNA base is replaced with another DNA base.
In the case of Progeria, cytosine is replaced by thymine. This one change in the long strand causes a problem in the protein Lamin A.
This protein, which helps build the nucleus inside each cell, is now unusable. In normal cells, the nuclear envelope is round and smooth like a circle.
However, in people who suffer from Progeria, the nuclear envelope is folded and uneven and distorted, thus making it more difficult for the nucleus to perform its job.
The cause of Progeria for many years was largely unknown; some researchers suggested that it could be an autosomal recessive transmission, others seem to believe it went the other way in an autosomal dominate mutation.
The cause of Progeria for many years was largely unknown; some researchers suggested that it could be an autosomal recessive transmission, others seem to believe it went the other way in an autosomal dominate mutation.
Eventually it was discovered that it was a mutation in a gene called LMNA (Lamin-A) in Chromosome 1.
Some of the signs and symptoms are typical for the age group, which are effected by Progeria, such as being short and thin. The other signs show us just how devastating Hutchinson-Gilford Syndrome really is.
- Prominent Eyes
- Scalp Veins
- Protruding Ears
- Beaked Nose
- Large head with hair loss.
- Narrowed or shrunken face.
- Small Jaw
- Open Soft Spot
- Dry Scaly or Think Skin
- Decayed or lack of formation in teeth.
- Limited range of motion.
- Balding and the loss of eyebrows and eyelashes.
- Skin wrinkling, with pigmented age spots.
- Loss of subcutaneous tissue.
- High-pitched voice.
- Undeveloped or underdeveloped sexual maturation.
- Bone lesions, which often result in fractures and hip dislocations.
- Abnormal delayed dentition.
1 comment:
Progeria is very rare disease.But I really feel sorry for those who are suffering from it.It is really unfortunate that still we don't have any perfect medical solution for this problem.
progeria facts
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