MYO7A

MYO7A (Myosin VIIA) is a protein that in humans is encoded by the MYO7A gene. This gene is a member of the myosin gene superfamily and encodes a protein that is an unconventional myosin. This protein plays a role in hearing and balance and is involved in the development and maintenance of the mechanoelectrical transduction machinery of hair cells in the inner ear. Mutations in this gene have been associated with Usher syndrome type 1B and nonsyndromic deafness.

Function

MYO7A is an actin-based motor molecule with ATPase activity. It is involved in cell motility. In the inner ear, MYO7A is crucial for the development and preservation of the hair cells, which are essential for hearing and balance. The protein is thought to be involved in moving cellular cargos and in actin filament dynamics. It may also play a role in the morphogenesis of photoreceptor cells in the retina.

Genetic and Molecular Basis

The MYO7A gene is located on the long (q) arm of chromosome 11 at position 15.1, from base pair 66,555,142 to base pair 66,844,633. The gene consists of multiple exons that encode the various domains of the MYO7A protein. Mutations in MYO7A can lead to a variety of genetic disorders, including Usher syndrome type 1B (USH1B) and nonsyndromic sensorineural deafness (DFNB2). These mutations can affect the motor activity of the protein, its ability to bind to actin, or its interaction with other proteins in the cell, leading to the clinical manifestations of the disorders.

Clinical Significance

1. 1. 1. Usher Syndrome Type 1B ###

Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. Type 1B is one of the most severe forms, with profound deafness from birth, vestibular areflexia, and progressive vision loss beginning in childhood due to retinitis pigmentosa. Mutations in the MYO7A gene are a common cause of Usher syndrome type 1B.

1. 1. 1. Nonsyndromic Deafness ###

Nonsyndromic deafness caused by mutations in the MYO7A gene is characterized by prelingual onset of severe to profound sensorineural hearing loss. Unlike Usher syndrome, it is not associated with retinal degeneration.

Diagnosis and Management

Diagnosis of conditions related to MYO7A mutations involves a combination of clinical evaluation, audiometric testing, and genetic testing. Management is supportive and includes hearing aids, cochlear implants for those with severe to profound hearing loss, and visual aids for individuals with retinitis pigmentosa. Genetic counseling is recommended for affected individuals and their families.

Research Directions

Research on MYO7A continues to focus on understanding its precise role in the inner ear and retina, the mechanisms by which mutations lead to disease, and the development of potential gene therapy approaches for treating conditions caused by MYO7A mutations.