NEW DELHI, Oct 15: A new study has found a connection between special patterns in RNA sequences within the ribosome — the cell’s protein production machinery — and genes known to contribute towards psychiatric disorders, including autism, ADHD, bipolar disorder, and schizophrenia.
The findings, published in the journal “Nature Communications”, also help explain why these mental conditions often co-exist in individuals, the researchers said.
A genetic sequence — DNA or RNA — are made from building blocks called ‘nucleotides’.
“If you consider each rRNA (ribosome RNA) sequence to be a ‘sentence’ then nucleotides are the letters comprising that sentence,” author Isidore Rigoutsos, a researcher at the Thomas Jefferson University in the US, said.
“If you can find a ‘motif’, i.e. a combination of nucleotides that repeats frequently, it’s reasonable to assume that you have found a word, but you do not yet know the word’s meaning and its purpose in a sentence,” Rigoutsos said.
Instructions in certain RNAs are read for making proteins and because RNA sequences can determine how a cell functions, studies look for patterns in the sequences that may offer clues for multiple purposes, including disease.
In this case, identifying the patterns is likened to determining words of an unknown language, according to Rigoutsos.
The researchers analysed the full human genome, which was published in March 2022, and discovered rRNA motifs that frequently appeared in genes related to the nervous system.
These genes are more likely to be associated with mental health conditions like autism, ADHD, schizophrenia, and bipolar disorder than “one would expect by chance”. Moreover, the copies of these motifs overlapped with gene variants previously linked to brain disorders in genome-wide association studies.
While it is not yet fully known in how these motifs of rRNA sequences influence the mental disorder, the findings suggest “the importance of casting a wider net”, Rigoutsos said.
“In autism, for example, most of the work has focused on studying the function of risk genes that encode (carry instructions for making) proteins,” he said.
“Our analysis suggests that another source of disruption may be in the manner these genes are regulated by non-protein encoding genetic material like rRNA,” the lead researcher said.
The authors wrote, “The human ribosomal RNAs and 45S spacers contain 1,723 such motifs. Specific combinations of these motifs are predominantly found in 3,430 human nervous system genes, of which 1,046 are genes associated with brain disorders, including autism spectrum disorder and schizophrenia.”
The results could also explain why schizophrenia, bipolar disorder, ADHD, and autism often appear together in individuals, the team said.
The disorders may be linked by the axis uncovered by this research that connects genomic architecture, rRNAs, and many risk genes for these conditions, they said. (PTI)
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