Each year, researchers make new strides into genetic research, including the discovery of new genetic disorders. According to Medical XPress, researchers from the University of Portsmouth and the University of Southampton recently discovered a new genetic disease caused by COPB1 gene mutations. So far, only a few patients with this condition have been identified. However, now that researchers have determined the underlying cause of this rare genetic disease, they could potentially come up with targeted treatment options, diagnostic tools, and genetic screening options. See the full research, entitled “Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly,” in Genome Medicine.

COPB1 Gene

According to Genecards, the coat protein complex 1 (COPB1) gene helps to form the coatomer complex, which:

forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum.

Beyond this new disorder, COPB1 gene mutations have been associated with hypothyroidism and otitis media. In this particular new disorder, which is yet to be named, researchers discovered that the mutations cause a variety of symptoms, such as:

• Abnormal brain development
• Developmental and intellectual delays
• Cataracts
• Microcephaly

The Research

In the research, scientists and geneticists performed DNA sequencing on patients and their families. During this sequencing, researchers determined that COPB1 gene mutations were causing the new disease.

Next, to study this burgeoning rare disease, researchers utilized tadpoles. They re-created the COPB1 genetic mutations within tadpoles and then compared altered tadpoles to a control group. Interestingly, gene mutation re-creation in tadpoles is relatively quick, taking only around 3 days to see results. In around 80% of tests, researchers were able to recreate genetic changes seen in human patients in tadpoles.

Ultimately, the researchers noted that tadpoles with COPB1 mutations also experienced smaller brains, less development, and cataract formation. Alternately, the control tadpoles did not experience these. Thus, researchers concretely determined the link between COPB1 mutations and the genetic disease.

Moving forward, researchers and geneticists hope to continue using DNA sequencing to discover, identify, and learn to treat rare genetic disorders.