Mitochondrial Function & Biomarkers
The mitochondria is the ______ of the cell.
POWERHOUSE
Maternally
Reactive Oxygen Species produced from ETC dysfunction
What is the most common additional comorbidity of those with ASD and MD?
GI disorders
What diet for ASD symptomatology is recommended?
Ketogenic Diet
Name 3 categories of Biomarkers utilized in determining MD?
Metabolic, Enzymatic, Genetic, CNS, and Environmental
All 37 mtDNA genes are essential for ___
normal mitochondrial function
Are all individuals diagnosed with ASD also diagnosed with mitochondrial dysfunction?
No, it is only a subset of those with an ASD diagnosis
Which organ’s micro biome is implicated in disrupting mitochondrial function?
The colon.
How long does it take for drugs to be developed and make it to clinical treatment?
15-20 years
Name one of the blood based Biomarkers that are elevated in cases of MD?
Lactate, pyruvate, Alanine, lysine, Acyl-carnitines, coenzyme Q10, Creatine kinase
Which type of mtDNA damage is associated with more pronounced developmental regression?
MtDNA deletions
Impaired _______ reduces ATP and increases production of ROS inside mitochondria.
Oxidative phosphorylation
What are refractory seizures in clinical context?
Resistant to antiepileptic treatment
What enzyme co-factor can be used to supplement a ketogenic diet?
Coenzyme Q10
What are two larger roles of mitochondria besides cellular respiration?
Neurodevelopment, cell differentiation, synaptic transmission, and calcium regulation
What are the two main differences between mtDNA and nDNA that lead to higher sensitivity in mtDNA?
High exposure to oxidative stress and lack of protective histones
In ASD patients with MD the levels of oxidative stress are significantly correlated with _______
The severity of ASD symptomatology
Displays deficiencies in respiratory chain enzyme complexes
What type of change occurs in mitochondria over the course of NSC cell differentiation?
Morphological changes in which they first become fragmented and then elongated
Name 3 of the broad regions that show diminished glucose utilization in ASD individuals with MD.
Frontal, temporal, occipital lobes and cerebellum (may accept hippocampus and striatum)
Does lower copy number of mtDNA lead a protective or deleterious effect on functionality?
Deleterious, because any mtDNA mutations will have greater impact on overall functionality with less heteroplasmy to counteract
Name 3 potential negative downstream effects of ROS in mitochondria that may play a role in ASD.
Triggering apoptosis, issues with cell differentiation, dendritic processes, and synaptic plasticity
Which cognitive clinical trait has been shown to coincide with both MD and seizure onset in ASD patients?
Neurodevelopmental Regression
What cell types in rats were used to test mitochondrial transplant treatment?
cardiomyocytes, myoblasts, neurons