Currently, medical experts are aware of numerous genetic diseases, diverse in the severity of their course, consequences, and the effect on the organs. In this regard, Tay–Sachs disease is one of the most complicated and simultaneously rarest disorders, which still cannot be entirely treated by any available means. The objective of this research paper is to examine Tay–Sachs disease, its genetics, symptoms, pathophysiology, and treatment.
Tay–Sachs disease is a genetic illness accompanied by the disruption of nerve cells in the spinal cord and the brain. “The incidence of this disease is one in 100,000 live births (carrier frequency of about one in 250)” (Solovyeva et al. 2). Infantile Tay–Sachs disease is the most prevalent form becoming observable at the age of about three to six years when babies lose the ability to sit, crawl, or turn over. Besides, patients develop an inability to move, seizures, and hearing loss.
Tay–Sachs’s early diagnosis is highly challenging due to the delicate clinical traits and the absence of typical biochemical markers. Patients generally display a difficult clinical course with the demise in early childhood, mostly by the six years. The treatment of Tay–Sachs is absent and comprises supportive methods involving various specialties, including psychosocial family aid.
Tay-Sachs disease relates to the branch of autosomal-recessive lysosomal storage metabolic conditions. The disease stems from β-hexosaminidase A (HEXA) enzyme deficit because of multiple mutations in this enzyme’s subunit gene (Solovyeva et al. 2). The mutation undermines the ferment activity, causing GM2 ganglioside accumulation mainly in nerve cells, ultimately resulting in their toxicity. Since Tay-Sachs disease is inherited from parents in an autosomal recessive way, it belongs to the Mendelian inheritance pattern. It is worth noting that, in addition to autosomal recessive, other principal patterns of Mendelian inheritance include X-linked and autosomal dominant.
Work Cited
Solovyeva, Valeriya V., Shaimardanova, Alisa A., Chulpanova, Daria S., Kitaeva, Kristina V., Chakrabarti, Lisa and Rizvanov, Albert A. “New Approaches to Tay-Sachs Disease Therapy.” Frontiers in Physiology, vol. 9, no. 1663, 2018, pp. 1-11.