Dr K M Kapoor
Amitabh Bachchan’s upcoming movie, PAA , has once again brought the issue of aging , to be more precise of premature or accelerated aging , in the Progeria patients to the forefront four years after the acclaimed Bodyshock series documentary ‘ The 80 year old children’ based on three progeric siblings of India was released in 2005 .
Aging can be defined as any change to an individual organism over a period of time. Aging is associated with several interdependent processes which are physical, social and psychological in nature. Other than the “typical” aging process that humans go through, there are rare disorders that cause persons to age faster than they are suppose to.
Premature or accelerated aging syndromes(PAA)
In Hutchinson-Gilford syndrome, signs begin to show around 6-12 months when the baby fails to gain weight and skin changes occur. Characteristic features include greying and loss of hair, prominent scalp veins and eyes, small jaw, delayed tooth formation. Patients have thin limbs with prominent joints, short stature, joint stiffness, and hip dislocations. The skin changes that indicate premature aging include skin thinning and loss of elasticity, loss of cutaneous fat, wrinkling, nail dystrophy, defective pigmentation and ulceration. Average life expectancy is 13 years, with approximately 75% dying from heart disease.
Werner Syndrome is known as a young adult syndrome. First sign of syndrome is around puberty when the child fails to have a normal growth spurt, or may be delayed until an individual is as old as 30 years. Characteristic features include greying hair and balding, wrinkling and aging of the face, sunken cheeks, small jaw & small stature (usually less than 1.6m tall), muscle weakness, thickened skin over joints leading to ulcers, & high-pitched voice. They also develop rapidly progressing cataracts, Osteoporosis, Diabetes mellitus (30%), cardiovascular disease – particularly arteriosclerotic disease, Hypogonadism and premature menopause. The incidence of malignancy is high, especially fibrosarcomas which occur in 10% of patients. Death usually occurs in patients between 30-50 years, with most dying from heart disease or cancer.
Progeria patients do not suffer from mental diseases like Alzheimer’s disease associated with aging. Every year is like another decade for a child with Progeria. Socially, the child tends to be shy amongst strangers as they are aware of their appearance. With friends and family, they are friendly, witty, and mischievous. A child with the Progeria disease have average or above average intelligence. In general, Progeria patients have normal emotions; like normal children, they are happy, sad, and angry in appropriate situations. Progeria, being a very rare disease, has only about 40-45 known cases in the world. This disease cannot be passed from parents to their children because affected kids do not live long enough to have children. But there can be more than one Progeria-affected sibling in a family. An Indian family reportedly has five children suffering from Progeria, and two of them are dead.
The cause of Hutchinson-Gilford has been now found and it is a mutation in the gene LMNA that produces the protein Lamin A, which is the structural scaffolding that holds the nucleus of a cell together. The cellular instability appears to lead to premature aging. Werner syndrome appears to be caused by a defect at the WS gene (WRN) locus, which provides instructions to a protein called helicase. Werner syndrome is caused by a helicase defect, which affects the way DNA and RNA are replicated and repaired in the body.
There is no specific treatment for Progeria. Management of the syndromes is through symptomatic treatment of related diseases. Genetic counselling is very important. Treatments can only reduce complications like cardiovascular diseases, with a possible heart bypass operation or daily low-dose aspirin therapy to prevent heart disease, as it is in at-risk adults. A high-calorie diet can probably prolong the life-span of patients and can improve their mood, energy levels and skin and hair health. Growth hormone treatment is being tested in Progeria patients. Physical or occupational therapy two to three times a week can help children stay active. There is hope that the future will bring gene therapies that treat the underlying genetic abnormalities. However it’s a long road from accomplishing this in a lab to successfully treating a child.
Progeria, though rare in occurrence, can help us study the aging process in greater detail. As aging and heart disease are the two most significant issues for most people in modern society, learning from Progeria about aging and heart disease might provide clues for the general population for age reversal and prevention of heart diseases.
Author: Dr K M Kapoor, MBBS, MS, MCh, DNB, Director, Anticlock™, Age Reversal Clinic, Chandigarh.
