North Carolina macular dystrophy

What causes North Carolina macular dystrophy (NCMD)?

In most families, North Carolina macular dystrophy (NCMD) is caused by changes in a specific area (locus) of chromosome 6, called the MCDR1 locus. However, other families with NCMD have been found to have changes in the MCDR3 locus on chromosome 5. Genetic changes that cause a disease used to be called mutations, but now are more commonly called pathogenic variations.

The way a pathogenic variation in the genetic locus causes NCMD can be hard to understand. In many genetic diseases, the change in the DNA that causes the disease is in a gene, and in these cases, the pathogenic variation changes the instructions (code) for making the gene's protein. But medical researchers believe the pathogenic variations that cause NCMD are in non-coding areas of the DNA. These regions of the DNA may control when the proteins are made from other nearby genes (gene expression). In fact in 2016, medical researchers found that pathogenic variations in the MCDR1 locus are in non-coding regions close to the PRDM13 gene. The protein made from the PDRM13 gene is believed to be important for macular development. However, it is too early to tell if the pathogenic variations in the MCDR1 locus are changing the expression of the PRDM13 gene. Similarly, studies in 2017 suggest the MCDR3 locus is also involved in controlling when other genes are turned on (gene expression). At present researches believe the changes in the MCDR3 locus that cause NCMD may be affecting the expression of the IRX1 gene. But again it is too early to be certain.

Last updated on 05-01-20


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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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