A team of scientists from Albert Einstein Hospital, in São Paulo, managed to transform urine cells into stem cells to study common molecular alterations in individuals with Down syndrome, as well as the response to medications. The unprecedented technique can contribute to the evolution of therapies and to the improvement of the quality of life of individuals with the genetic alteration.
The first results of the study were published in an article in springer platform in January of this year. Collection of cells from urine provides a safe and non-invasive approach for patients. Until then, tests of this nature were only performed by biopsy with skin samples, a procedure carried out in the hospital with medical assistance for the collection of fibroblasts.
“We use cells desquamated in the urine to generate induced pluripotent stem cells (iPSCs), which are differentiated into other cell types, such as neurons, astrocytes and even brain organoids”, explains researcher Bruna Zampieri, one of the study’s authors.
The model offers a platform to study the neurodevelopment and neurobiology of Down syndrome and discover potential new drug targets that can improve the quality of life of these individuals.
“This can help us collect important information that can support the design of preclinical studies to improve the quality of life for these people. To date, there are no medications that delay the onset of dementia in individuals with Down syndrome or their learning disabilities, for example,” says the author of the study.
It is estimated that two out of ten people with Down syndrome develop dementia after age 45, much earlier than the general population.
Next steps of the study
The researcher recognizes that the first stage of the research has some limitations, such as the limited number of participants. She hopes to be able to do further research and include a larger number of individuals with and without the syndrome to compare the results.
“We want to make more organoids and look for different proteins or particles to test drugs that act in that organism”, says Bruna.
world down syndrome day
This Tuesday (21/3) marks World Down Syndrome Day. The date was chosen by the United Nations (UN) in 2012 to promote global awareness and ensure that individuals with the syndrome have the same opportunities as everyone else.
The Brazilian Federation of Down Syndrome Associations (FBASD) estimates that there are 300,000 people with Down syndrome in Brazil. For every 700 babies, one is born with the genetic change caused by the presence of a third copy of chromosome 21 in every cell in the body.
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