Progeria – A Genetic Anomaly That Inspired Bollywood Movie – PAA!

Progeria or HGPS (Hutchinson-Gilford Progeria Syndrome) is an atypical, terminal genetic anomaly categorized by a manifestation of hastened aging or prematurely growing old in infants.

Prevalence

Progeria cases amount to nearly one in four to eight million new births affecting duo sexes analogously and noticed in all races and across the globe.

Trademark Features

• Though they appear healthy, infants having Progeria start exhibiting several traits of hastened aging at about eighteen to two years of age.
• Progeria signs could consist of failure to grow, loss in fat content in the body and hair, aging noted on the skin, rigidity in the joints, dislocated hips, wide-ranging atherosclerosis, heart ailments and stroke.
• All these infants have a strikingly analogous appearance, in spite of being from varying ethnic settings.
• Infants with Progeria face fatality due to atherosclerosis – a kind of cardiovascular disease at about 13 years of age on an average (ranging in the ages from eight to twenty-one years).

Association between Progeria and Aging

• Infants having progeria have a genetic predisposition to untimely, progressive cardiovascular ailments. Demise is almost entirely due to prevalent cardiovascular ailment and one of the leading reasons of death globally.
• Those ailing from cardiovascular ailment, the familiar occurrences for Progeria infants are elevated blood pressure, stroke, angina – chest pain due to inadequate blood circulation to the heart, enlargement in the heart, and all related conditions to aging.

Progeria Causes

• HGPS occurs due to mutation in the gene known as LMNA that manufactures the Lamin A protein that is the compositional scaffolding holding together the nucleus of a cell.
• Scientists presently have found strong links between the flawed Lamin A protein and the instability of the nucleus that appears to herald the process of untimely aging noted in Progeria.

Probing the Genetic Link

• HGPS is not generally hereditary. The gene variation is nearly at all times a chance happening that is quite atypical.
• Infants having other forms of progeroid syndromes that are not HGPS could have ailments that are passed down from parents to their offspring.
• Yet, HGPS is a random autosomal dominant mutation wherein a family having one kid with HGPS, non-twin siblings have similar likelihood of getting HGPS much alike any other infant in any other kin – an occurrence of nearly 1 in four to eight million. In quite atypical cases, nearly once every hundred cases of Progeria (regularity of approximately one in four hundred million deliveries), HGPS could be heritable in nature.

Progeria Diagnosis & Treatment

• With the discovery of gene mutation, the scientists are analysing particular genetic variation or mutation in the Progeria gene leading to HGPS.
• Subsequent to a preliminary clinical assessment by observing the child’s appearance and past medical records, a blood sample is drawn for testing the presence of the Progeria gene.
• For the foremost occasion, there is a state-of-the-art, scientific means of diagnosing kids that would lead to more precise and earlier detection for aiding in providing these kids appropriate care and tending.
• The Progeria Research Foundation has set up a Medical and Research Database for providing doctors and kin with medical suggestions for tending to heart ailments, dietetic intake and other medical issues for assisting these kids lead a fuller and enhanced quality of life.

Bollywood’s new move releasing in December 2009 is based on a story of a 13 year old boy suffering from Progeria, being played by Indian mega-star Amitabh Bachchan.

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