Progeria Genetic Disorder Project

Created By: Khalil Moore

Progeria

Hutchinson-Gilford Progeria Syndrome is a rare genetic disease characterized by the accelerated aging in children. Progeria affects 1 in 4-8 million newborns. It's estimated that 200-250 children living with the disease at one time. Since The Progeria Research Foundation was created in 1999, children with Progeria were discovered living in over 40 countries.

Symptoms and Biology of Disease

  • Growth failure during the first year of life
  • Narrow, shrunken or wrinkled face
  • Loss of eyebrows and eyelashes
  • Baldness
  • Small jaw
  • Open Soft Spot
  • Dry, scaly, thin skin
There's a biological overlap between children with Progeria and the normal aging population. People make a little bit of progerin, the disease causing protein in Progeria. Healthy people make less progerin than the children with progeria, but it builds up over a lifetime and might be the cause of aging such as atherosclerosis. Progerin is also linked to telomere dysfunction. Telomeres are proteins that have a major role in cellular aging.

People affected by Progeria

Type of Mutation and Inheritance

HGPS is caused by a mutation in the gene called LMNA. The LMNA gene produces the lamin A protein which holds the nucleus of a cell together. The abnormal lamin a protein is progerin. Progerin makes the nucleus unstable, causing the premature aging and disease in Progeria.

HGPS isn't usually passed down in families. The gene is always a chance occurrence but it's extremely rare. Children with other types of progeriod syndromes might have diseases passed down in families. HGPS is a sporadic autosomal dominant mutation. Sporadic meaning it's a new change in that family, and dominant because only one copy of the gene is needed to be changed in order to have that specific syndrome.

Diagnosis/Treatments/Ethical Implications

Making a diagnosis of progeria includes taking a personal and family history, such as bad growth and weight gain, and completing a physical examination. There's no way to avoid progeria, and there aren't treatments that can cure progeria. But, regular medical care and certain treatments can reduce some symptoms and slow the progression of the disease. There are no moral or ethical problems with progeria. The only issue is due to the symptoms of progeria syndrome, people affected by it picked on because of it.

Refrences