Understanding the relationship between thyroid health and Prader-Willi Syndrome (PWS) can shed light on the intricate connections between hormonal imbalances and genetic disorders. Both play crucial roles in regulating bodily functions, and their interaction can significantly impact an individual’s well-being.

Hypothyroidism, which involves an underactive thyroid gland, can further slow down metabolism and contribute to weight gain, which is already a concern in PWS due to low muscle tone and an insatiable appetite. Those diagnosed with PWS can take some precautions regarding their thyroid health like regular monitoring of thyroid hormone levels which is very important for early detection and management of thyroid dysfunction. For the medical adherence, if hypothyroidism is diagnosed, it’s very essential to adhere to medication prescribed by a medical advisor to manage and regulate the thyroid hormone levels.

Growth hormone treatment is recommended early in the first year of life as greater effects are observed in children with PWS. Its benefits include positive action on linear growth, body composition, motor function and psychomotor development.

Obesity has to be treated only by observing a healthy lifestyle. One has to follow a balanced healthy diet and engage in daily physical activities which is very crucial not only for this issue but for maintaining holistic health. Individuals with PWS should receive regular medical care from healthcare providers familiar with the syndrome, who can monitor their thyroid health and overall well-being closely.

There is much talk about whether removing or blocking Structural Maintenance of Chromosomes (SMCHD1) can allow some maternal genes to ‘wake up’, potentially improving some of the symptoms of PWS.

PWS is a tricky condition that affects people from birth. It brings a lot of problems, like trouble controlling eating, learning difficulties, weak muscles, and behavioural issues. Scientists think they might have found a way to help some of these problems by tinkering with something called SMCHD1 which is like a traffic controller for genes. It decides which ones get to be active and which ones stay quiet. In PWS, some genes that should be active are turned off. That’s where SMCHD1 comes in.

Recent studies have shown that when scientists block or turn down SMCHD1, some of those silent genes, especially ones from the mom’s side, might wake up. It’s like giving a gentle nudge to these sleepy genes to start doing their job. One big issue with PWS is uncontrollable hunger, which often leads to obesity. This is because some dysfunction in the brain, makes people with PWS always feel hungry. But if we can wake up certain genes related to how the brain controls hunger, it might help them feel less hungry and stay healthier.

Not just hunger, but problems with thinking and moving are also common in PWS.

By waking up certain genes involved in brain development and muscle strength, it’s possible that people with PWS could get better at learning and moving around. However, there are still a few things to figure out before this becomes a treatment. We need to make sure that waking up these genes won’t cause any new problems or make things worse. We also need to know when and how long to do it to get the best results without any side effects. In the end, though, the idea of waking up silent genes to help with PWS  sounds promising as it could make life a lot easier for those living with this condition.

Scientists still have a lot of work to do, but they’re hopeful that one day, this approach could offer a ray of hope for those affected by PWS.

(The author is a general physician and senior consultant in family medicine.)

Published 04 May 2024, 20:25 IST

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