Moscow - Saba:
A new study by Razumovsky State Medical University in Saratov, Russia, has identified the relationship between various gene mutations and the development of hearing loss genes. The study indicates that the data obtained will help develop new methods for diagnosing and treating these diseases.
The university's press office confirmed that researchers from Razumovsky State Medical University today studied the genetic causes of sensorineural hearing loss in children.
To this end, they examined 26 patients with this condition, ranging in age from one to 18 years, and analyzed their medical histories and the results of molecular genetic studies. The scientists discovered pathogenic genes in 21 children responsible for the development of various diseases and syndromes associated with hearing loss.
Hearing loss is a decrease in hearing associated with problems in the inner ear or auditory nerve. The most common form of this condition in children is sensorineural hearing loss. This disease negatively impacts children's development, as the sense of hearing plays a fundamental role in building language abilities, intelligence, and social skills. Scientists have so far identified approximately 180 genes, mutations of which lead to the development of sensorineural hearing loss.
Pediatrician Mikhail Lobanov, a professor in the Department of Pediatrics and Neonatology at Razumovsky State Medical University in Saratov, noted that the discovery of the disease-causing gene variant in a child with hearing loss could have a double meaning.
Lobanov explained, "On the one hand, the disease-causing gene may be directly linked to the development of isolated sensorineural hearing loss and serve as the main and only sign of a mutation.
On the other hand, the hearing loss may simply be a 'mask' for a more complex, and often extremely rare, genetic disease." For her part, Olga Gomenyuk, a geneticist and professor in the Department of Pediatrics and Neonatology at Razumovsky State Medical University, emphasized that for this reason, molecular genetic diagnostics should become a mandatory final stage in the search for the cause of sensorineural hearing loss in children, especially if the condition is not caused by inflammation or injury.
Gomenyuk continued: "Molecular genetic diagnostics helps prevent misdiagnoses. For example, some children with hearing loss, delayed speech, and delayed psychoemotional development may be mistakenly diagnosed with autism spectrum disorder, even though it is based on a different genetic condition. If a patient has mutations associated only with hearing loss, this helps the physician determine the prognosis for hearing function (stable or progressive), develop a plan for medical monitoring by an audiologist, otolaryngologist, speech therapist, and geneticist, and develop an individualized plan for auditory rehabilitation and speech development support."
Specialists at Razumovsky State Medical University believe that the results of their research will help develop new methods for genetic diagnosis and treatment of various diseases.
The university researchers also confirmed that "scientists are currently working intensively on developing genetic engineering methods for gene editing. Researchers are also working to stimulate the regeneration of hair cells in the inner ear, whose death is one of the causes of hearing loss. We believe that hearing loss is not a death sentence."
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