International Journal of Molecular Zoology 2024, Vol.14, No.1, 9-17 http://animalscipublisher.com/index.php/ijmz 10 1 Molecular Basis of Hereditary Blindness 1.1 Common genetic mutations and pathogenic genes in hereditary blindness SHereditary blindness comprises a group of rare diseases caused by genetic mutations, and its incidence varies with different types of genetic alterations. In the investigation of the molecular basis of hereditary blindness, some common genetic mutations and pathogenic genes have been identified. A prevalent form of hereditary blindness is cone-rod dystrophy (CRD). This condition is often associated with mutations in the RHO gene, which encodes opsin and plays a crucial role in the visual transduction process. Similar diseases include retinitis pigmentosa (RP) (Figure 1), caused by mutations in various genes such as RHO, RPGR, and RP1 (Böhm et al., 2020). Mutations in these genes result in damage to rod and cone cells, ultimately leading to blindness. Figure 1 BR clinical manifestations (Source: Wikipedia) Leber's hereditary optic neuropathy (LHON) is another hereditary blindness disease typically caused by mutations in mitochondrial genes such as MT-ND1, MT-ND4, and MT-ND6. These genes encode subunits of the mitochondrial respiratory chain complex, and their mutations impair mitochondrial function, triggering degenerative damage to the optic nerve. Retinal pigment epithelium dystrophy (RPED) is a group of diseases often involving mutations in the RPE65 gene. RPE65 encodes a crucial enzyme in the retinal pigment epithelial cells, maintaining the balance of vitamin A metabolism in the visual cycle. Mutations in the RPE65 gene result in the loss of function in retinal pigment epithelial cells, affecting visual function. 1.2 Exploring the biological mechanisms of hereditary blindness Understanding the molecular basis of hereditary blindness requires an in-depth study of the biological mechanisms related to visual transduction. Visual transduction is a highly complex process involving multiple cell types and signaling pathways. The visual process begins with rod and cone cells in the retina, containing visual pigments that can sense light and convert it into neural signals. Mutations in visual pigments affect the quality of light perception; therefore, CRD and RP caused by RHOgene mutations, as well as RPED caused by RPE65 gene mutations, are associated with visual pigment dysfunction. The optic nerve is a critical site for transmitting light signals to the brain, and LHON is linked to the loss of mitochondrial function. Mitochondria play a vital role in cellular energy production, crucial for optic nerve conduction. Mutations in MT-NDgenes affect the function of mitochondrial complexes, resulting in reduced energy production and damage to optic nerve cells.
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