ABCC9 gene mutation that helps the function of collagen and elastin, which are elastic proteins
Could the voice be hereditary? The first large-scale genetic study of the human voice has identified a genetic component associated with high-pitched voices regardless of gender. This is the content reported by the science journal Nature, based on a paper by Icelandic researchers published in Science Advances on the 9th (local time).
Previous research has found genetic effects on voice, primarily by identifying mutations that cause speech impairment in people. However, Dr. Rosa Signi Gisladottir, a geneticist and linguist at deCODE Genetics (hereinafter referred to as DeCODE), an Icelandic genetics company that conducted this study, said, “It is not possible to find genetic variations that actually affect voice pitch in large populations. This is the first time we have found it,” he said.
A person’s voice is shaped in part by body size and hormones. This is why women’s voices have a higher pitch than men’s. But another factor is genes.
“It’s common knowledge that voices follow family,” said Kari Stefansson, a geneticist and CEO of DeCode. To prove this genetically, scientists have conducted a variety of studies over the years, including comparative studies of twins that can separate genetic and environmental influences.
But it would take a lot more people to find out which genes play which roles. So Decode appeared. Founded in 1996, the company has made Iceland a center for genetic research by mining the vast genetic information of Icelanders. Iceland has a population of only 380,000, few family trees can be traced back to ancestors, and the country keeps detailed family records, making it easy to spot variations and relate them to traits or diseases.
According to DeCode’s website, more than half of Iceland’s current adult population has participated in the company’s genetic research. In exchange for free health information, Stepansson said, applicants receive intensive four-hour observations on everything from bone density to mental health.
To find the genes behind voice pitch, Decode’s researchers recorded the voices of about 13,000 Icelanders and compared their voice frequencies to a genetic database. As a result, they found that common mutations in a specific gene called ABCC9 were correlated with high-pitched vocalization regardless of age or gender.
It’s not clear exactly how genetically this happens, but the researchers have a few hypotheses. Among other things, ABCC9 contains the blueprints needed to create ion channels that help proteins like collagen and elastin do their job. Collagen and elastin help stretch body tissues, including vocal cords.
The researchers also found that people with the high-pitched-negative mutation were more likely to suffer from heart disease. At first glance, it seems irrelevant, but the researchers explained that this is a natural result because collagen and elastin help the heart muscle work properly. Too much collagen or defective elastin can make heart tissue stiff and malfunction. This can also be applied to the elastic parts of the vocal cords, explains Dr. Gisladottir.
Stefansson believes that this is not the end of the story and that other genes may be involved in shaping voice pitch. However, more statistical power is needed to find this. Professor Julie Miller (neuroscientist) of the University of Arizona, USA, who reviewed the thesis, said that large-scale research that directly records human voices and compares them with genes like this study is “desperately needed.” He says Decode’s study shows a good correlation between ABCC9 mutations and voice pitch, but it needs to be supported by animal experiments to prove that the mutation actually causes higher pitch.
The paper can be found at the following link (https://www.science.org/doi/10.1126/sciadv.abq2969).
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