What Does the GNAS Gene Do?
To fully understand what is happening with Maximus’s GNAS mutation, it is first necessary to understand what the GNAS gene does.
According to MedlinePlus Genetics:
The GNAS gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). Each G protein is composed of three proteins called the alpha, beta, and gamma subunits. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions by regulating the activity of hormones. The G protein made with the subunit produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of endocrine glands such as the thyroid, pituitary gland, ovaries and testes (gonads), and adrenal glands. Adenylate cyclase is also believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis). In this way, the enzyme helps prevent the body from producing bone tissue in the wrong place (ectopic bone).
The proper functioning of the gene is so important for bone structure and the regulation of endocrine glands. Most of the “common” genetic issues related to the GNAS gene are McCune-Albright syndrome and Albright hereditary osteodystrophy. While these diseases are considered rare, the type Maximus has is considered the “rarest of rare.” It’s so rare his condition has not been named. That being said, we are still waiting for further genetic testing to be able to tell us more about his condition, his future, and other potential issues.
In order to do this, we need to research to fully understand what Maximus’s future looks like. He has bone lesions throughout his skin, pushing up in the 30-40 lesions across his body. As he continues to grow, we are unsure what will happen with the ectopic bone.
The Mighty Maximus Foundation, Inc has sent articles of incorporation and is currently working on securing a 501(c)(3) nonprofit status. Until we receive this, we are unable to accept donations. Please consider making a purchase in our shop to show your support! Above all, continue to share Maximus’s story. Rare diseases need to be researched and those living with rare diseases deserve treatment.
