Queen Mary-led research uncovers why people who have Down’s Syndrome age prematurely

An overdosed gene on chromosome 21 causes people with Down’s Syndrome to age faster than the general population.

Published on:  13 July 2023

” Molecular processes responsible for natural ageing of cells are poorly understood. Studying conditions in humans where ageing is accelerated due to genetic causes presents opportunities to learn about the mechanisms that control ageing and devise strategies to slow down the ageing process.

Adults who have Down’s Syndrome (DS) show earlier signs of ageing-related conditions: reduction in tissue regenerative capacity, alopecia, dry skin, delayed wound healing, chronic gum disease, osteoporosis, senescence of the brain and immune cells. DS is a genetic, but not inheritable condition, caused by being born with an extra copy of chromosome 21 (trisomy 21). It affects around 7 million people worldwide (around 60,000 in the UK).

DS is the most frequent genetic cause of intellectual disability and early onset Alzheimer’s disease. While increased risk of early Alzheimer’s is clearly caused by an extra copy of the amyloid precursor protein gene (APP) encoded on chromosome 21, the genetic basis for the other conditions is not easily explainable.

New research published in the Lancet Discovery journal eBioMedicine, led by Queen Mary’s Professor Dean Nižetić and Dr Aoife Murray, with collaborating institutions from Croatia, Singapore, France, Italy and four other London universities, has uncovered an overdosed gene on chromosome 21 causes cells of people with DS to age prematurely.

The study has shown that biological age of people who have DS is on average 19.1 years older than the chronologically age-matched people who don’t have DS. The research has also shown that this is not caused by co-morbidities of DS, and that the premature ageing process starts very early in childhood. The gene for a kinase (a type of enzyme that speed chemical reactions in the body) called DYRK1A was identified as the main cause of the premature ageing component of DS, showing that this gene’s overdose disturbs the DNA-damage-repair mechanisms, causing cells to develop more breaks in their DNA and fragility of their cell nuclei.

Dean Nižetić, Professor of Cell and Molecular Biology at Queen Mary, said:

“We have uncovered that trisomic overdose of this gene (DYRK1A) is one of the main contributors to premature biological ageing in DS. Further research is needed to understand how much this contributes to brain development and function, and also in finding ways of precisely inhibiting the overdose of this gene back to physiological levels. This could open exciting new possibilities for early interventions in DS, but a lot more research is needed.”

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The APDSF AGM was organized on the 3rd and 4th of December 2022 at the ITC Grand Hotel, Chennai.

The APDSF AGM is organized in a member country every year. However due to the pandemic it was done virtually in 2020 and 2021. It is after 2 years that a physical AGM has been organized. The aim of the AGM is primarily to apprise countries about the goings-on in the region and how we can learn from one another about things to do and what has worked for persons with Down syndrome in a country and how it can be done in one’s own country.


About APDSF – Some key points

  1. The APDSF is into Advocacy/lobbying for the rights of persons with Down syndrome.
  2. We hold a CONSULTATIVE STATUS with the Economic And Social Council (ECOSOC) of the UNITED NATIONS.
  3. APDSF began as a collection of members from various countries who used to meet informally once a year to discuss issues related to Down syndrome in their respective countries.
  4. APDSF became a formal registered body in 2017 with Mr. Ramachandran elected President.
  5. PDSF was registered under the Tamilnadu Societies Act and came into existence as a formal body on 4-March 2017.

The aim of the APDSF is as follows:
a. To create and develop the conditions which will enable people with Down Syndrome to live full and rewarding lives and attain their full potential in the Asia Pacific region.
b. To create Parent Support Groups across the region for parents to have a community that can support one another through any time.
c. Providing assistance to children with Down Syndrome to improve their skills and to develop their skills in sports.
d. To arrange for conferences and lecture meetings or topics of interest for Down Syndrome children/parents with Down Syndrome Children.
e. To undertake the charitable activities in connection with the Down Syndrome in the Asia Pacific region.
f. To become member of similar Federations for improving the objects of the Federation.
g. To do all such other acts, deeds and things as are incidental and conducive to the attainment of the above or any one of them.
h. Spread information about latest developments in the World of Down syndrome through our quarterly newsletter. Every member country contributes to the newsletter with information from their country which serves as a pointer for other countries in the region.

What was Different this time?
A medical Committee Meeting was organized at the APDSF AGM this year with medical professionals from across the region participating in the event. The aim of the Medical Committee Meeting is to create guidelines for the Down syndrome community in the region, in the fields of Medical and Therapeutic support. Members from the medical fraternity as well as therapists are here to discuss the important aspects to be taken into consideration from the time a child is born with Down syndrome.

The medical committee meeting had been planned during our AGM in 2019. However due to the pandemic in 2020, the event got postponed for the next AGM. The pandemic however did not deter us from organizing our AGMs virtually. So in the year 2020 and 21, our AGMs took place over Zoom. All countries participated in the zoom and we were able to come up with concrete plans to help persons with Down syndrome across the region.

This medical committee meeting was chaired by Dr. Bhavani Sriram who is a doctor from Singapore and one of the Vice Presidents of the APDSF. She works in the field of Medical support for persons with Intellectual Disabilities. The medical committee was able to come with 3 major areas where we could guide and support persons with Down syndrome. This included:

1. Redefining the Health Passport by countries using it in a test group of at least 30-40 people
2. Guidelines for persons with Down syndrome. A very elaborate one not possible since it would be country specific, so a basic structure t be created in discussion with the medical committee members.
3. Post Natal Counselling to be standardized.

The AGM was organized on the second day – 4th of December 2022. The roadmap for the year 2023-26 was discussed and decided upon in consultation with all the members. The advisor of APDSF – Mr. Paul Zanon gave a concrete roadmap to help APDSF evolve as a bigger, more supportive body for the countries in the region.

The APDSF AGM resulted in the following resolutions being made
1. APDSF will ensure a Zoom meeting once in 4 months, apart from the AGM
2. APDSF will promote information sharing over social media.
3. Countries will bring in neighboring countries into the APDSF fold so that APDSF as an organization can support the other countries in the region.
4. The APDSF office in Chennai will be raising funds for the following activities of the APDSF
a. Research programs
b. Medical committee
c. Support activities

The AGM came to a close with the various countries willing to progress by ensuring immediate responses and reaching out to neighbors to guide and support them in their activities to help persons with Down syndrome.
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Nepal- heading in the right direction

Happy to share DSSHA – Nepal’s first venture after inception in March 2022, ” Multidisciplinay free Medical Camp for Down syndrome ” conducted today

It was a grand success with infants , children and adults from Kathmandu and districts outside availed Eye , ENT with hearing test , Dental , Physio, Occupational and Speech therapy assessment and tips to improve , Counselling for new parents under one roof

A Radiologist doctor , parent of DS with Autism shared her experiences and also gave an insight into role of Radiology in diagnosis of problems seen in DS .

I feel proud of my own Dream baby DSSHA with the meaning DIRECTION

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