Progeria
Progeria (Greek pro, "to, for" and geron, "old") is a genetic disease of childhood extremely rare, characterized by an abrupt and premature aging in children between their first and second year of life. It is estimated to affect one in 8 million live births. Not shown preference for any particular gender, but many more have been reported white patients (97% of affected patients). Progeria can affect different organs and tissues: bone, muscle, skin, subcutaneous tissue and vessels.
The most severe form of this disease is called Hutchinson-Gilford syndrome, named in honor of Jonathan Hutchinson, who was the first to describe en1886 and Hastings Gilford who conducted various studies on its development and features in 1904.
Clinical Features
• Short stature.
• dry and wrinkled skin.
• Premature baldness.
• Canas in childhood.
• Prominent eyes.
• Large Skull.
• cranial veins protruding.
• Absence of eyebrows and eyelashes.
• Big Nose and peak shape.
• Chin retracted.
• Heart problems.
• Narrow chest with protruding ribs.
• Tips and skeletal thin.
• Narrowing of the coronary arteries.
• big and stiff joints.
• Skin spots similar to those of old age by poor metabolism of melanin.
• Presence of degenerative diseases such as arthritis or cataracts of old age.
• Delayed Mitosis reticoendoplasmático.
• Lack of sexual gametes and thoughtful.
• Impaired dentition.
• osteolysis of the distal third of the clavicle.
• osteolysis of distal phalanges in the hands and feet.
• Osteoporosis.
• Atherosclerosis.
• Natural death before 18 years.
Cause
Progeria laminopatía is recognized as one associated with mutations in the gene encoding LMNA lamin A / C, the main component of the nuclear lamins. The most frequent mutation is a point mutation at position 1824 in exon 11, which creates a mutation at codon 608 and activates the cryptic splice site leading to a truncated lamin A. As a result, loss occurs in the 50 amino acid C-terminus of the form of the protein
The most severe form of this disease is called Hutchinson-Gilford syndrome, named in honor of Jonathan Hutchinson, who was the first to describe en1886 and Hastings Gilford who conducted various studies on its development and features in 1904.
Clinical Features
• Short stature.
• dry and wrinkled skin.
• Premature baldness.
• Canas in childhood.
• Prominent eyes.
• Large Skull.
• cranial veins protruding.
• Absence of eyebrows and eyelashes.
• Big Nose and peak shape.
• Chin retracted.
• Heart problems.
• Narrow chest with protruding ribs.
• Tips and skeletal thin.
• Narrowing of the coronary arteries.
• big and stiff joints.
• Skin spots similar to those of old age by poor metabolism of melanin.
• Presence of degenerative diseases such as arthritis or cataracts of old age.
• Delayed Mitosis reticoendoplasmático.
• Lack of sexual gametes and thoughtful.
• Impaired dentition.
• osteolysis of the distal third of the clavicle.
• osteolysis of distal phalanges in the hands and feet.
• Osteoporosis.
• Atherosclerosis.
• Natural death before 18 years.
Cause
Progeria laminopatía is recognized as one associated with mutations in the gene encoding LMNA lamin A / C, the main component of the nuclear lamins. The most frequent mutation is a point mutation at position 1824 in exon 11, which creates a mutation at codon 608 and activates the cryptic splice site leading to a truncated lamin A. As a result, loss occurs in the 50 amino acid C-terminus of the form of the protein