Cells in the brain contain proteins called calcium channels that can regulate Calcium levels within the cells. Calcium levels inside the cells are 10,000 fold lower than Calcium levels outside the cells. The calcium channels are gate keepers of Calcium, allowing only the required amount inside the cell by opening briefly and then the gate shuts. Calcium cannot be changed or transformed by the body, which makes it imperative to regulate calcium levels inside the cells, to prevent it’s build up at toxic levels.
Gene mutation: A mutation in the gene for these gate proteins can alter their structure causing them [calcium gates] to stay open much longer than usual. This allows calcium to continue to enter inside the cell abnormally. The result? An overload of Calcium inside the cell. It is a novel disorder characterized by autism and other features. Read more about the CACNA1C gene and CaV1.2 Calcium channel, for information on where to find geneticists, disease manaagement & therapy and additional information.
Inheritance of calcium channel disorder: Most cases of this calcium channel (CaV1.2) disorder is inherited by a new mutation (G406R) with no previous history of this altered gene in their family.
Possible therapy? Although, the role of this calcium channel as important for the contraction of the heart is known, its role within the cell is not well understood, yet. The disorder is caused by an inability of these Calcium gates to close. What does that result in? Yes, a Calcium overload inside the cells. This also suggested to the researchers that Calcium channel blockers may be useful for treating this disorder.
Researchers: This discovery by Dr Igor Splawski and colleagues demonstrates the importance of Calcium imbalance and established the importance of Calcium in human development and implicates Calcium in cell signaling and Autism.
Did you appreciate this research on Calcium channels? Then, do write to Dr Igor Splawski and let him know that. Email: firstname.lastname@example.org or Snail mail: Department of Cardiology, Children’s Hospital, Departments of Pediatrics and Cell Biology, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115 USA. Invite him or his colleagues to discuss the role of Calcium channels in Autism or human development. You will really enjoy his contribution to community – he has over 30 patents.
Although, the gene mutation causes this disorder, it is also clear that too much Calcium cannot be good for a human. That is why, it should not surprise anyone who has read Dr Igor Splawski’s teams’ research papers to learn about other issues when a person eats too much Calcium. Have you heard of women breaking their femur bone in their leg? You will also learn that they regularly have high doses of Calcium supplements to prevent osteoporosis or bone loss in women as they age. It is unclear why eating natural sources of Calcium is safe while eating Calcium in excessive supplement form might cause bones to break.