Study Uncovers Mechanism Behind Calcium Protein Mutation Causing Night Blindness

Researchers at the Johns Hopkins University School of Medicine have uncovered the molecular mechanism behind the mutation in a calcium channel protein that causes stationary night blindness.

Researchers at the Johns Hopkins University School of Medicine have uncovered the molecular mechanism behind the mutation in a calcium channel protein that causes congenital stationary night blindness.

Congenital stationary night blindness is an inherited condition that affects one's ability to see in the dark and is caused by a mutation in a calcium channel protein that shuttles calcium into and out of cells.

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Calcium and vitamin supplements are taken to provide the body with the ''required'' nutrients. Calcium is a mineral found in many foods. Vitamins are very important nutrients for the body.

And the new discovery could offer a more general principle of how cells control calcium levels.

The feat could have implications for several other conditions, including neurodegenerative diseases such as schizophrenia and Alzheimer's, Parkinson's and Huntington's diseases.

"Calcium is so crucial for normal functions like heart contraction, insulin control and brain function. If calcium levels are off at any time, disease can ensue. Our new approach, watching calcium channels in action in living cells, allowed us to tease apart how they behave and how they're controlled and find a new module that could be targeted for drug design," Nature quoted Dr. David Yue as saying.

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The aberrant calcium channel protein that causes this type of night blindness is missing the tail end of the protein.

The researchers compared the ability of this protein to full-length versions by examining how well they can maintain electrical current in cells.

Normal channels show a decrease in current with an increase in calcium levels.

"We and others initially believed that the missing piece of the protein might behave to simply switch off the ability of elevated intracellular calcium to inhibit this current. Without this module, there's no way to down-regulate the calcium entering through these channels," said Yue.

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However, the researchers found out that in reality, this module functions in a far richer and nuanced manner.

Calcium channels are known to be controlled by the protein CaM, which senses and binds to calcium, whereupon CaM binds to channels in a manner that inhibits their calcium transport function.

The researchers found that the tail module doesn't simply turn off channel sensitivity to calcium; rather, the module smoothly retunes how sensitive channels are to CaM, and in turn how sensitive the transport function of channels is to intracellular calcium.

Overall, the tail module smoothly adjusts how much calcium enters cells.

This manner of adjustment "may bear on many neurodegenerative diseases where calcium is dysregulated," said Yue.

The study has been published in Nature.

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