MEGDEL syndrome is caused by mutations in the SERAC1 gene.
Understanding the Cause
The root cause of MEGDEL syndrome lies in genetic alterations specifically within the SERAC1 gene. This gene provides the instructions for the body to produce a protein, but the precise function of this protein is not entirely understood. Research indicates that the SERAC1 protein is involved in remodeling certain fats, called phospholipids, especially phosphatidylglycerol.
The Role of SERAC1 and Phospholipids
While the exact mechanism is still being investigated, it's believed that the SERAC1 protein plays a vital role in maintaining the health and function of mitochondria, the powerhouses of cells. Phospholipids, like phosphatidylglycerol, are key components of mitochondrial membranes. When the SERAC1 gene is mutated, it disrupts the normal remodeling process of these phospholipids. This disruption is thought to impair mitochondrial function, leading to the various symptoms observed in MEGDEL syndrome.
In Summary
Mutations in the SERAC1 gene are the underlying cause of MEGDEL syndrome. These mutations likely disrupt the proper function of the SERAC1 protein, affecting the remodeling of phospholipids and ultimately impairing mitochondrial function.
