Genetic Test
The TSEN54 (tRNA Splicing Endonuclease Subunit 54) gene encodes a protein that plays a key role in the processing of transfer RNA (tRNA) by removing intronic sequences to produce mature, functional tRNA molecules.
Proper tRNA maturation is essential for accurate protein synthesis within cells.
Mutations in the TSEN54 gene have been associated with impaired brain development, as the resulting disruption in protein production can affect the formation and maintenance of central nervous system structures.
This genetic test targets a specific TSEN54 mutation associated with leukodystrophy, a group of disorders characterized by the abnormal development or degeneration of the white matter in the brain.
Disease Description
Leukodystrophy refers to a group of disorders that affect the white matter of the central nervous system.
White matter consists of bundles of nerve fibers responsible for transmitting signals within the brain and spinal cord. It serves as the communication network of the brain.
Leukodystrophies are characterized by progressive degeneration or defective maintenance of the myelin sheath, which insulates and protects nerve fibers.
This condition typically results in bilaterally symmetrical lesions within the white matter, reflecting widespread and often diffuse involvement of the brain’s communication pathways.
