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Tuesday June 30, 2009

Rare conditions

THE case of Brooke Greenberg appears to be one of its kind. However, in February another instance of a baby that doesn’t appear to age was reported in Britain. At the age of 14 months, Suraya Brown was almost the same size as when she was newborn – weighing 1.8kg and 0.48m tall. Doctors are baffled at her frozen growth. But since it’s early days, some people have raised the possibility of Primordial Dwarfism.

While research is ongoing to solve the mystery of Brooke and the link to arresting ageing, some quarters wonder if it will unlock Pandora’s box. Can you imagine a world where everyone still reproduces but no one ages?

Unfortunately, there seems to be no possibility of using that knowledge to treat progeria – the condition where one ages quickly and prematurely (while seemingly a reverse of Brooke’s condition, it is totally unrelated). Progeria arises from damage to a gene governing certain biological functions, while for Brooke it may be a specific master gene controlling ageing.

There are other conditions that involve ageing or have symptoms that seem to mimic Brooke’s condition. Here are a few examples:

Werner Syndrome: A hereditary disease of young adults that is characterised by short stature, early greying and balding, tendency for diabetes, cataracts, vascular disorders, and generally premature ageing and death. It is caused by the mutation of a gene that gives instructions on the maintenance and repair of DNA.

Cockayne Syndrome: An inherited rare disorder characterised by short stature and an appearance of premature ageing. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), small head size, impaired development of the nervous system, and an abnormal sensitivity to sunlight. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, and problems with internal organs. Also caused by mutation of two different genes involved in the repair of DNA.

Majewski Osteodysplastic Primordial Dwarfism Type II: A rare dwarfism disorder where some of the symptoms include the head disproportionately smaller to the body, conspicuous nose, dislocation of the hip at childbirth (for some), a height of less than 1m in adulthood, feeding problems and aneurisms (a preponderance to strokes). The cause is unknown and the average life expectancy is around 30. – By S.S. Yoga

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