The survey for Down syndrome of countries in the Asia Pacific Region
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.”
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
- The APDSF is into Advocacy/lobbying for the rights of persons with Down syndrome.
- We hold a CONSULTATIVE STATUS with the Economic And Social Council (ECOSOC) of the UNITED NATIONS.
- 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.
- APDSF became a formal registered body in 2017 with Mr. Ramachandran elected President.
- 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.
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