For Families

GPI-anchored proteins (GPI-APs) are proteins attached to the membrane of cells through a chain composed of a specific succession of sugars and lipids, thus called a glycophosphatidylinositol chain, or GPI for short. GPI-APs play key roles in different processes including embryonic development, neurogenesis, immune responses and fertilization.  

The generation of these GPI anchors is a multi-step process that involves many proteins which work in a sequential manner. When this pathway is disrupted or when a protein is not functioning properly, GPI biosynthesis disorders can occur. Mutations in genes encoding several of the proteins involved in this pathway have been reported by many different research groups. 

In affected individuals, it has been observed that the nervous system is the system that is mainly affected, but anomalies in the integumentary, skeletal, muscular, and excretory systems can also occur. Intellectual disability (ID), developmental delay (DD), and seizures are the most common characteristics found in individuals with mutations in GPI biosynthesis genes reported so far. 


(Click on image to enlarge)

 

Some of these genetic mutations were found to be treatable by Vitamin B6, for example (for PIGO and PIGV genes), or with butyrate (PIGM gene). As more information is uncovered about how these genes work and behave, a better understanding and the development of better treatments can be developed. 


To participate in one of our studies, please contact us.


To reach out to other families, you can use this PIGN IGD Facebook group, or create your own.

Other options to connect with other families: 

You can create a Google listserv group

Finally, you could create your own patient organization, some advice can be obtained from NORD.

We can post links to groups here upon requests.