BCKDK mutations and autism continued

The paper by Gaia Novarino and colleagues* published in 2012 represented an important milestone in autism research. With all the talk about the plurality of autism – the autisms – their suggestion that in a small number of children presenting with epilepsy and autism a particular genetic issue was found controlling the degradation of some important compounds called the branched-chain amino acids (BCAAs) was important. Even more so when when researchers concluded that presented symptoms in their group may be potentially ‘treatable’ by means of of a dietary supplement of said BCAAs including the amino acids valine, leucine and isoleucine.

A recent report by Angels García-Cazorla and colleagues** builds upon the previous Novarino research with their observations of two unrelated children showing genetic issues with the gene previously researched (BCKDK, Branched Chain Ketoacid Dehydrogenase Kinase gene). García-Cazorla et al alongside detecting genetic glitches in the BCKDK gene in their cases, were also able to show some of the biochemical effects as a consequence of the mutations found in terms of the accelerated degradation of BCAAs in participant’s cells. They report that supplementing with BCAAs combined with a protein rich diet positively altered circulating levels of the BCAAs and impacted on presented symptoms in one of the participants.

The findings from García-Cazorla et al whilst promising require further research and investigation. They do not imply that all cases of autism are ‘treatable’ via the use of BCAAs; overdose of which can have important health consequences under certain circumstances. The research does support the ideas that there may be different types of autism, different routes to the presentation of symptoms and importantly, different developmental trajectories based on comorbidity or the use of specific types of intervention. It also adds to an increasingly important body of literature implicating amino acids – the building blocks of proteins – in some cases of autism.

* Novarino G. et al. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science. 2012; 338: 394-397.
** García-Cazorla A. et al. Two Novel Mutations in the BCKDK Gene (Branched-Chain Keto-Acid Dehydrogenase Kinase) are Responsible of a Neurobehavioral Deficit in two Pediatric Unrelated Patients. Hum Mutat. 2014 Jan 21. doi: 10.1002/humu.22513.

Further commentary on this study can be found at: http://questioning-answers.blogspot.com/2014/02/bckdk-mutations-and-autism-continued.html