Mitochondria are the power-house of the individual cell of any tissue, to burn food to derive energy. Cells of brain burn only glucose, since burning fats would reduce the insulation and burning proteins would destroy memory banks. Cells of the rest of body burn sugars when high, fats when sugar is low and proteins in emergency, except heart that has learnt to burn fats mainly because the level of blood sugar fluctuates too much and fat levels are fairly always in adequate blood level. That is why almost 80% of fats are made by liver and only a small fraction is contributed by food.
Adapted from dreamstime.com
The mitochondria is so important that it has its own DNA (mtDNA) in addition to nuclear DNA (nDNA), Reduced nicotinamide adenine dinucleotide and reduced.flavin adenine dinucleotide transport energy to the
mitochondrial electron transport chain (ETC), a series of reactions known as oxidative phosphorylation. Mitochondria contain two plasma membranes, an inner and an outer membrane. The ETC is located in the inner mitochondrial membrane and consists of five multi-subunit enzyme complexes (complexes I through V) and two electron carriers (ubiquinone, also known as co-enzyme Q10, and cytochrome c).
Importance of Mitochondrial Dysfunction
As per "Mitochondrial dysfunction in autism spectrum disorders a systematic review and meta-analysis", Molecular Psychiatry (2012) 17, 290-314, DA Rossignol and RE Frye
The prevalence of MD in the general population of ASD was 5.0% (95% confidence interval 3.2, 6.9%), much higher than found in the general population (B0.01%). The prevalence of abnormal biomarker values of mitochondrial dysfunction was high in ASD, much higher than the prevalence of MD. Variances and mean values of many mitochondrial biomarkers (lactate, pyruvate, carnitine and ubiquinone) were significantly different between ASD and controls. Some markers correlated with ASD severity. Neuroimaging, in vitro and post-mortem brain studies were consistent with an elevated prevalence of mitochondrial dysfunction in ASD. Taken together, these findings suggest children with ASD have a spectrum of mitochondrial dysfunction of differing severity.
The prevalence of many of the symptoms and signs, as mentioned below, suggests that ASD/MD represents a distinct subgroup of children with MD. Most ASD/MD cases (79%) were not associated with genetic abnormalities, raising the possibility of secondary mitochondrial dysfunction.
Mitochondria are present in both plants and animal species. Some depend on oxygen fo produce Adenine tri-phosphate, the cellular battery for energy while others can do so without the presence of free oxygen, getting their oxygen from other chemical breakdown. The former are called aerobes while the latter are called an-aerobes.
Children of autism with mitochondrial deficiency have subtle differences from routine autism cases. As per Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, et al. (2008) Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort; Analysis. PLoS ONE 3(11): e3815. doi:10.1371
The medical records of 25 patients with a primary diagnosis of ASD by DSM-IVTR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction was reviewed.
SYMPTOMS
Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included
increased marked delay in early gross motor milestones: (32%)
increased unusual patterns of regression: (40%)
increased levels of blood lactate: 76%
Levels of plasma alanine: 36%
increased serum ALT (SGPT) and/or AST (SGOT): 36%, and 52%
ETC disorders of deficiencies of complex I (64%)
ETC disorders of deficiencies of complex III (20%)
Two patients had rare mtDNA mutations
Conclusions/Significance: Although all patients’ initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.
MANAGEMENT
Standard Rehab as the sheet anchor of therapy
Control by Electron carriers (available)
Control by Carnitine (available)
Control by mHBAT (available). I prefer to avoid high pressure pure oxygen HBOT because of its slight;y greater chance of relapsing epilepsy and possible Free Radical damage, which is already inherent in about 40% children with autism, and often detected in sleep EEG.
TREATMENT OPTION
Contact Dr. Mukherjee. Also, SKYPE consultation available for international and outstation parents of children with autism spectrum and other NDDs, by prior appointment through E-mail and transfer of consultation charges to designated bank account as will be informed on E-mail.
