HEXDC
HexDC: The Intriguing Enigma in Human Health
Description
HexDC (Hexosaminidase D) is an enigmatic enzyme that plays a crucial role in the human body's metabolism. It belongs to the hexosaminidase family, which is responsible for breaking down glycosaminoglycans (GAGs), complex sugars found in various tissues. HexDC specifically targets chondroitin sulfates (CSs), a type of GAG that is abundant in cartilage and provides structural support and resilience.
Associated Diseases
Dysregulation of HexDC activity has been linked to several human diseases, including:
- Mucopolysaccharidosis Type IV (MPS IV): Also known as Morquio syndrome, MPS IV is a rare inherited disorder caused by a deficiency of HexDC. It leads to the accumulation of CSs in various tissues, resulting in skeletal deformities, short stature, corneal clouding, and cognitive impairment.
- Late-onset Tay-Sachs Disease: A rare variant of Tay-Sachs disease, which is characterized by the progressive accumulation of a different type of GAG, GM2 ganglioside. Late-onset Tay-Sachs is caused by mutations in the HEXB gene, which encodes the beta subunit of HexDC.
- Neurodegenerative Diseases: Recent research suggests that HexDC may play a role in the development and progression of neurodegenerative diseases such as Alzheimer's and Parkinson's. Studies have shown that HexDC activity is reduced in these conditions, leading to the accumulation of CSs in the brain.
Did you Know ?
Approximately 1 in 200,000 individuals worldwide are affected by MPS IV, highlighting the rarity of HexDC deficiency.
