Achondrogenesis

Causes

What gene causes achondrogenesis?

The gene change for achondrogeneis type 1A is not well understood as of 5/20/2016 but in 2010 mutations in the TRIP11 gene was seen in 10 unrelated patients. Achondrogenesis type 1B is caused by a mutation in the SLC26A2 gene. Achondrogenesis type 2 is caused by mutations in the COL2A1 gene.

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What role does the TRIP11 gene play in achondrogenesis?

What environmental influences make symptoms worse in achondrogenesis?

What role does the TRIP11 gene play in achondrogenesis?

The TRIP11 gene provides instructions to create a protein that plays a roll in the Golgi apparatus formation which ensures the cell proteins work properly. Changes in the Golgi apparatus causes the cells to have problems converting cartilage to bone.

The SLC2A2 gene creates a protein that is essential in the development of cartilage and how it becomes bone. In Achondrogenesis type 1B the change in the SLC2A2 gene causes the structure of the cartilage to be abnormal and therefore it cannot be transformed into bone.

Achondrogenesis type 2 is caused by a change in the COL2A1 gene. This gene normally provides instructions for making a protein that creates type 2 collagen. This collagen is found mostly in cartilage. Changes in the COL2A1 gene causes the collagen not to form correctly and therefore disrupt the development of bone.

What environmental influences make symptoms worse in achondrogenesis?

There are no environmental or other outside influences that make the symptoms worse in achondrogenesis.

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