Introduction
Scientists have long recognized that genetics play a role in shaping the way individuals’ voices sound. However, identifying the specific genes involved and understanding their influence has proven challenging. In a groundbreaking study published in Science Advances, researchers from deCODE Genetics conducted the first large-scale genetic study of human voices. The study identified mutations in a gene called ABCC9 that are correlated with higher voice pitch, irrespective of an individual’s sex. This discovery provides valuable insights into the biological mechanism underlying voice pitch and highlights the importance of genetic factors in shaping our voices.
Understanding Genetic Effects on Voice
While previous research focused on identifying genetic mutations associated with speech disorders, this study marks the first time a genetic variant directly affecting voice pitch across a large population has been identified. Prior studies had confirmed the hereditary nature of voice pitch by investigating twins and separating genetic influences from environmental factors. These studies, along with anecdotal evidence of voice similarities within families, suggested a genetic basis for voice pitch.
Leveraging Iceland’s Genetic Database
DeCODE Genetics, a genomics company based in Reykjavik, Iceland, played a pivotal role in this study. Iceland’s population is ideal for genetic research due to its detailed genealogical records and the ability to trace family trees back to a small number of ancestors. More than half of Iceland’s adult population has participated in deCODE’s genetic studies, providing a rich source of genetic information. Volunteers undergo extensive observation, including the recording of their voices, to establish correlations between genetic variants and traits or diseases.
The Role of ABCC9 Gene
In the study, nearly 13,000 Icelanders had their voices recorded, and the frequencies of their voices were compared with deCODE’s genetic database. The research team discovered shared mutations in the ABCC9 gene, which were consistently associated with speaking at a higher pitch across different ages and sexes. The ABCC9 gene contains instructions for creating an ion channel that helps ensure the proper functioning of collagen and elastin proteins. These proteins facilitate tissue stretchability, a crucial requirement for vocal cords to vibrate effectively.
Biological Mechanism and Heart Conditions of Gene
The exact mechanism by which ABCC9 gene mutations affect voice pitch remains unclear. However, the study revealed that individuals with high-voice-pitch mutations in ABCC9 were more likely to have heart conditions. This connection can be attributed to collagen and elastin’s involvement in maintaining proper heart muscle movement. Excessive collagen and faulty elastin can lead to stiffening and malfunctioning of heart tissue. Similarly, these proteins may affect the elasticity of vocal cords, contributing to variations in voice pitch.
Further Exploration and Future Research on Genes
Although this study provides valuable insights into the genetic influence on voice pitch, the researchers believe that other genes are likely involved in shaping voice characteristics. Identifying these genes would require larger sample sizes and increased statistical power. Neuroscientist Julie Miller from the University of Arizona suggests that future studies should test the causal relationship between ABCC9 mutations and voice pitch in animals to strengthen the findings.
Conclusion
The groundbreaking study by deCODE Genetics sheds light on the genetic factors influencing voice pitch. The identification of mutations in the ABCC9 gene associated with higher voice pitch provides a significant advancement in understanding the biological mechanisms underlying vocal characteristics. While further research is necessary to uncover additional genes involved in voice pitch, this study marks a crucial milestone in unraveling the genetic basis of our voices
References-
Gisladottir, R. S. et al. (2023). Large-scale genetic study of human voices identifies mutations in ABCC9 correlated with voice pitch. *Science Advances*, 9, eabq2969.
Debruyne, F.et al. (2002). Genetic influences on voice: A review for the speech-language pathologist. *Journal of Voice*, 16(4), 466-471.
Van Lierde, K. M. et al. (2005). Genetic and environmental factors in dysphonia. *Journal of Voice*, 19(4), 511-518.
https://doi.org/10.1101/2023.05.23.23290253