What is progeria?

Progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic condition that causes children to prematurely age. It affects around one in four million newborns worldwide [1] . At birth, children generally appear healthy but by one year of age, changes to growth and development begin to occur. Children typically weigh less and are shorter than others their age. A distinctive appearance develops, including aged-looking skin, baldness and a small face. As children age, progressive atherosclerosis and heart disease develops, which becomes fatal at an average age of 13-14 years [1] . There is currently no treatment or cure for progeria.

Atherosclerosis

Fatty deposits within arteries of the body.

Heart disease

A class of diseases that involves the dysfunction of the heart and/or the blood vessels.

Genetic

Related to genes, the body's units of inheritance or origin.

1. “Learning About Progeria.” Accessed November 7, 2014.

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1. “Learning About Progeria.” Accessed November 7, 2014.

External link

Causes

Progeria is caused by a mutation of the gene LMNA (pronounced Lamin A). In progeria, the LMNA gene is altered at a very specific point, which not only makes the condition very rare, but causes a range of symptoms associated with premature ageing.

The mutation occurs at random, which means that parents and siblings are virtually never affected by the condition.

Gene

A unit of inheritance (heredity) of a living organism. A segment of genetic material, typically DNA, that specifies the structure of a protein or related molecules. Genes are passed on to offspring so that traits are inherited, making you who you are and what you look like.

Mutation

An inheritable change in the base sequence of the genome of an organism.

1. “Learning About Progeria.” Accessed November 7, 2014.

External link

1. “Learning About Progeria.” Accessed November 7, 2014.

External link

Signs and symptoms

Signs and symptoms of progeria usually appear from around the age of one year. These can include:

  • Weighing less and being shorter than others their age;
  • Aged-looking skin;
  • Hair loss and baldness;
  • Visible veins;
  • Small face with a pinched nose relative to head size, and;
  • Delayed tooth formation.

A child with progeria. 

As children grow older, accelerated ageing occurs, which involves symptoms that would more often occur in older people. These can include:

Arteries

A blood vessel carrying blood saturated with oxygen from the heart to the body's tissues.

Atherosclerosis

Fatty deposits within arteries of the body.

Heart disease

A class of diseases that involves the dysfunction of the heart and/or the blood vessels.

Joint

A connecting surface or tissue between two bones.

Veins

A blood vessel carrying blood (usually non-oxygenated) from the body's tissues to the heart.

Dislocations

A displacement of a body part, such as a joint, from its normal position.

1. “Learning About Progeria.” Accessed November 7, 2014.

External link

1. “Learning About Progeria.” Accessed November 7, 2014.

External link

Methods for diagnosis

It is possible to diagnose progeria using a genetic test. This involves taking a blood sample to see if there is a mutation in the LMNA gene.

Gene

A unit of inheritance (heredity) of a living organism. A segment of genetic material, typically DNA, that specifies the structure of a protein or related molecules. Genes are passed on to offspring so that traits are inherited, making you who you are and what you look like.

Genetic

Related to genes, the body's units of inheritance or origin.

Mutation

An inheritable change in the base sequence of the genome of an organism.

1. “Learning About Progeria.” Accessed November 7, 2014.

External link

1. “Learning About Progeria.” Accessed November 7, 2014.

External link

Types of treatment

Currently there is no cure for progeria; however, research is ongoing. There are medications available to manage some symptoms and improve quality of life. These include cholesterol-lowering medications to slow atherosclerosis and osteoporosis medication to increase bone density. Low-dose aspirin can also be given to reduce the risk of complications associated with progeria, including heart attack and stroke.

Recently, a clinical trial looking at the effectiveness of a drug called lonafarnib in children with progeria was conducted [2] . The medication was originally developed to treat cancer. The research found that all participants in the trial benefitted from the drug in one or more of the following ways - weight gain, better hearing, improved bone structure and increased flexibility of blood vessels. It isn't a cure, but may improve certain outcomes.

Atherosclerosis

Fatty deposits within arteries of the body.

Cancer

A large group of diseases whose common feature is that they are caused by an uncontrolled growth of the body's cells.

Cholesterol

A type of fat produced by the body that is necessary for metabolism.

Bone density

Also known as bone mineral density, it is a measure of bone strength calculated as the mineral content per square centimetre of bone. The higher the mineral content, the denser and stronger the bones.

2. “Progeria Research Foundation | About Progeria.” Accessed November 7, 2014.

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Potential complications

Children born with progeria have an increased risk of heart attack and stroke that can occur at any age. It is therefore important to frequently monitor blood pressure and have regular echocardiogram and electrocardiogram (EGC) tests to evaluate heart function. Brain imaging is also possible to look for any abnormalities, including abnormal blood vessel formation or blood vessel narrowing.

Blood pressure

The pressure the blood places on the walls of the arteries, largely mirroring the contraction of the heart, and consisting of two readings. The higher reading is systolic blood pressure, when the heart contracts, and the lower is diastolic blood pressure, when the heart is relaxed.

Echocardiogram

An ultrasound image of the heart.

Electrocardiogram

A chart of the heart's electrical activity.

2. “Progeria Research Foundation | About Progeria.” Accessed November 7, 2014.

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Prognosis

Progeria causes accelerated ageing that becomes fatal at a young age. Treatment aims to manage symptoms and increase quality of life by continuously monitoring health and limiting the chance of life-threatening complications including heart attack and stroke. Currently there is no cure for progeria.

2. “Progeria Research Foundation | About Progeria.” Accessed November 7, 2014.

External link

Prevention

Progeria is caused by an extremely rare mutation to the gene LMNA that occurs randomly and therefore cannot be prevented.

Gene

A unit of inheritance (heredity) of a living organism. A segment of genetic material, typically DNA, that specifies the structure of a protein or related molecules. Genes are passed on to offspring so that traits are inherited, making you who you are and what you look like.

Mutation

An inheritable change in the base sequence of the genome of an organism.

2. “Progeria Research Foundation | About Progeria.” Accessed November 7, 2014.

External link