Editing Point mutation (section)

===Tay–Sachs disease===
The cause of [[Tay–Sachs disease]] is a genetic defect that is passed from parent to child. This genetic defect is located in the HEXA gene, which is found on chromosome 15.

The HEXA gene makes part of an enzyme called beta-hexosaminidase A, which plays a critical role in the nervous system. This enzyme helps break down a fatty substance called GM2 ganglioside in nerve cells.
Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of the fatty substances. As a result, the fatty substances accumulate to deadly levels in the brain and spinal cord.  The buildup of GM2 ganglioside causes progressive damage to the nerve cells.  This is the cause of the signs and symptoms of Tay-Sachs disease.<ref>{{cite web|url=http://nervous-system.emedtv.com/tay-sachs-disease/causes-of-tay-sachs.html|title=Causes of Tay-Sachs|last=eMedTV|access-date=28 December 2011|archive-date=6 August 2020|archive-url=https://web.archive.org/web/20200806104952/http://nervous-system.emedtv.com/tay-sachs-disease/causes-of-tay-sachs.html|url-status=dead}}</ref>