Written by Dr. Siddharth Nath Edited by Dr. Sriram Jayabal
SCA38 results in a deficiency of an omega-3-fatty acid called docosahexaenoic acid (DHA). Scientists from Italy had shown previously that short-term DHA supplementation reduces disease symptoms. Now, new research from the same group finds that this impact continues with long-term DHA supplementation.
What is SCA38?
One of the rarer forms of ataxia, SCA38 is an autosomal dominant SCA that occurs as a result of mutations in the ELOVL5 gene. This gene contains the recipe for the protein called elongase. It is responsible for building long-chain fatty acids in the brain, including docosahexaenoic acid (DHA), a process key for normal cellular function. Importantly, this protein is found mostly in Purkinje cells, a special type of neuron found within the cerebellum of the brain.
In SCA38, mutant elongase is found primarily in a part of the cell called the Golgi apparatus, which is responsible for packaging proteins and finalizing production, similar to a quality-control technician in an assembly line. Normally, elongase is found at the endoplasmic reticulum, which is further up the assembly line, more akin to the fabrication section.
This mislocation of the protein may explain why it is unable to produce sufficient amounts of long-chain fatty acids to support healthy Purkinje cell function. Deficiencies in DHA resulting from mutations in elongase are detectable by blood tests.
You’ve probably heard of omega-3-fatty acids. Omega-3 fatty acids are part of a larger group of molecules called polyunsaturated fatty acids to which the omega-6 fatty acids also belong. DHA is a type of omega-3 fatty acid. Omega-3 fatty acids and omega-6 fatty acids are often touted as a key component of a healthy diet.
Omega-3-fatty acids are important building blocks of the cellular membrane, which is part of all cells in the body. Humans aren’t able to make omega-3-fatty acids ourselves, we need to get them from our diet. That is why many food guides have recommended intakes of omega-3 and omega-6 fatty acids from oily fish and nuts. Vegetarians can also supplement their diet with flaxseed or algae capsules to get these fatty acids in their diet.
DHA is just one of many omega-3-fatty acids and it is most prevalent in the membranes of brain cells, where it plays a key role in normal brain function. Thus, when there is a disturbance or deficiency in the level of DHA, we can expect brain function to become impaired, as is the case in SCA38.Continue reading “Fishing for a solution to SCA38 – are omega-3 fatty acids the key to symptom relief?”