LOS ANGELES, April 24 (Xinhua) -- U.S. researchers have demonstrated the effectiveness of a potential new therapy for Timothy syndrome, an often life-threatening and rare genetic disorder that affects a wide range of bodily systems.
The syndrome may lead to severe cardiac, neurological, and psychiatric symptoms as well as physical differences such as webbed fingers and toes, the U.S. National Institutes of Health (NIH) said on Wednesday.
The treatment restored typical cellular function in 3D structures created from cells of people with Timothy syndrome, known as organoids, which can mimic the function of cells in the body.
These results could serve as the foundation for new treatment approaches for the disorder, according to the study, published in the journal Nature.
"Not only do these findings offer a potential road map to treat Timothy syndrome, but research into this condition also offers broader insights into other rare genetic conditions and mental disorders," said Joshua A. Gordon, director of the U.S. National Institute of Mental Health, part of the NIH.
Stanford University professor Sergiu Pasca and his colleagues collected cells from three people with Timothy syndrome and three people without Timothy syndrome and examined a specific region of a gene known as CACNA1C that harbors a mutation that causes Timothy syndrome.
They tested whether they could use small pieces of genetic material that bind to gene products and promote the production of a protein not carrying the mutation, known as antisense oligonucleotides, to restore cellular deficits underlying the syndrome.
"Our study showed that we can correct cellular deficits associated with Timothy syndrome," said Dr. Pasca. "We are now actively working towards translating these findings into the clinic, bringing hope that one day we may have an effective treatment for this devastating neurodevelopmental disorder."
