Step I Mosaic G protein signaling

[MudPhud20XX]

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So FA has "McCune-Albright syndrome (mosaic G-protein signaling mutation)."

What the heck is "mosaic" G-protein signaling? Has anyone seen any q with regard to this dz/concept?

 

[Keto]

Hi

I once read a nice explanation for McCune-Albright, which helped me remember the pathology since...:

1. Mutation causes growth signals (cGMP) to be translated into make-hormone signals (cAMP).
2. In McCune-Albright, no two cases are the same.

a.k.a. "Somatic (postzygotic) mutation of the alpha subunit of the G3 protein that activities adenylate cyclase." (UpToDate)

Endocrinology: everything can be potentially upregulated... classically precocious puberty.. but also: thyrotoxicosis, gigantism or acromegaly, cushing syndrome, rickets... as mentioned, no two cases in McCune-Albright are the same.
Bones: "Are not growing" → but fibroblast (fibrous dysplasia of bone)
Skin: "Is not growing" → but dark pigments (café-au-lait skin pigmentation)

All the questions I saw on McCune albright's, as far as I remember, were about making the diagnosis and differentiate it to the other "cafe-au-lait"-conditions.

Have a good day!

 

[MudPhud20XX]

Hi

I once read a nice explanation for McCune-Albright, which helped me remember the pathology since...:



Endocrinology: everything can be potentially upregulated... classically precocious puberty.. but also: thyrotoxicosis, gigantism or acromegaly, cushing syndrome, rickets... as mentioned, no two cases in McCune-Albright are the same.
Bones: "Are not growing" → but fibroblast (fibrous dysplasia of bone)
Skin: "Is not growing" → but dark pigments (café-au-lait skin pigmentation)

All the questions I saw on McCune albright's, as far as I remember, were about making the diagnosis and differentiate it to the other "cafe-au-lait"-conditions.

Have a good day!

Dang Keto, you a da man from Switzerland!