Leon Botha was a South African DJ and painter. He was born on 4th June 1985. At first a healthy, normal-looking child, at age 4 he received a startling diagnosis. A condition that caused him to live in a body that looked significantly older than what he really was. A condition that caused him to suffer a heart attack in 2005. A condition that took his life on 5th June 2011, at the age of 26. And, believe it or not, he’s believed to be one of the longest survivors of this condition- Progeria.
Progeria is an extremely rare, progressive genetic disorder that causes children to age rapidly, especially in their first two years of life. It was first discovered in 1886 by Dr Jonathan Hutchinson and in 1897 by Dr Hastings Gilford.
Progeria is caused by a mutation in the gene called LMNA. This gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. According to research, a defect in the Lamin A protein causes the nucleus to become unstable. This cellular instability causes premature ageing.
Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated ageing within the first two years of life. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. Patients of different ethnic backgrounds present this condition in remarkably similar ways, looking nearly identical to one another. Children with Progeria generally die of atherosclerosis (a heart disease) at an average age of fourteen years. (1)
On 6th January 2021, The science journal “Nature” published breakthrough results that genetic editing in a mouse model of Progeria corrected the mutation that causes Progeria in many cells, improved several key disease symptoms and increased the lifespan of the mice.
The study was co-led by a world expert in genetic editing, David Liu, PhD, of the Broad Institute, MIT, Jonathan Brown, Assistant Professor of Medicine in the Division of Cardiovascular Medicine at Vanderbilt University, and Francis Collins, MD, PhD, Director of the National Institutes of Health. Co-funded by the Progeria Research Foundation (PRF) and co-authored by PRF’s Medical Director, Dr Leslie Gordon, the study found that with a single injection of a base editor programmed to correct the disease-causing mutation, mice survived 2.5 times longer than the control group of mice with untreated Progeria, to an age corresponding with the start of old age in healthy mice. Importantly, treated mice also retained healthy vascular tissue—a significant finding, as loss of vascular integrity, is a predictor of mortality in children with Progeria.
Other progeroid syndromes cause rapid ageing and a shortened lifespan. These include syndromes such as Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, with symptoms of ageing seen at birth. It also includes Werner syndrome, also known as adult progeria, which begins in the teen years or early adulthood with symptoms like premature ageing and conditions that are more likely present in old age.
As of today, no treatment for Progeria has been found, however, regular monitoring of heart and blood vessel disease may help to ease or delay some of the symptoms. Treatment depends on the child’s condition and symptoms. These include (2):
Low-dose Aspirin, which may help prevent heart attacks and strokes.
Other medications such as statins to lower cholesterol, drugs to lower blood pressure, anticoagulants to help prevent blood clots, and medications to treat headaches and seizures.
Physical and occupational therapy may help with joint stiffness and hip problems to help the child remain active.
Nutritious, high-calorie food and supplements can help maintain adequate nutrition.
From the descriptions of progeria symptoms detailed above, it is clear that day to day tasks are certainly not easy for progeria patients. However, despite these challenges, many are taking the initiative to spread awareness about this rare disease. One such activist is Hayley Okines. Hayley was a teenager from England who captured the hearts of many through her documentaries about Progeria which provided viewers with an insight into the true effect of this disease. She also won the Children of Courage award for her activism. Despite beating the odds and surpassing her predicted life expectancy (13 years), Hayley, unfortunately, passed away on 2nd April 2015 at the age of 18, but her contribution towards raising awareness about this disease will always be remembered
Although there is no cure to Progeria yet, patients often live their life to the fullest just like Leon Botha, and even leave a lasting mark on the world like Hayley Okines. It is important to understand that although they are facing unique challenges, progeria patients are human beings at the end of the day and therefore deserve the utmost dignity and respect from each and every one of us.
Written by Prajwal Namboodiri
1. Lombardo, C. R. (2014, September 4). Famous People with Progeria. HRF. https://healthresearchfunding.org/famous-people-progeria/
2. Progeria - Symptoms and causes. (2018, February 1). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038
3. The Progeria Research Foundation. (2019, May 9). About Progeria. https://www.progeriaresearch.org/about-progeria/
4. The Progeria Research Foundation. (2021, April 15). What’s New in Progeria Research.
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