Most people who have heard about genetic defects causing mitochondrial dysfunction are probably most familiar with MELAS.
MELAS is caused by a defect in the mitochondrial DNA (mtDNA), responsible for oxidative metabolism and generating energy to the central nervous system (including the brain) and to the muscles.
MELAS stands for "Mitochondrial Encephalomyopathy And Strokes".
Encephalo refers to the brain.
Myo refers to the muscles.
It can cause blindness, strokes, cognitive problems, muscle wasting and death. But because the number of mitochondria affected can vary -- as well as the random groupings of them in the body and the severity of the defects -- the severity of the problems and which body systems are affected, can vary.
A few other encephalomyopathies related to mitochondrial dysfunction, are Kearns-Sayre syndrome (KSS), myoclonus epilepsy and ragged red fibres syndrome (MERRF).
There are also regular (nuclear) DNA defects that can affect the functioning of mitochondria.
Something to keep in mind is that for some families and some individuals, the ONLY symptom of an inherited mitochondrial defect is in the manifestation of "psychiatric" symptoms that may be diagnosed as "Schizophrenia" or a related disorder .
Others may have the "psychiatric" symptoms as well as multiple other symptoms of oxidative stress, aging, weakness, etc, but not so severe that doctors would commence a very complicated, painful, and expensive search for a hereditary problem affecting the mitochondria.
The next thing to keep in mind is that even when starting out with healthy functioning mitochondria, a person's mitochondria can become dysfunctional over time. The severe stress from other illnesses, physical or psychic traumas, symptoms, the person's own biological wiring (how they react to stressors) and even individual variations which we do not fully understand, can all cause oxidative stress and mitochondrial dysfunctions.
What is scary is that this oxidative stress and mitochondrial dysfunction can further compromise the functioning of the brain. So... dysfunction of the mitochondria can cause stressful symptoms causing further deterioration of the mitochondrial functioning.
The hallucinatory, cognitive, sleep, and delusional symptoms of "schizophrenia" can be horrifically stressful. Since "schizophrenia" is considered a "mental" disorder, the resulting stress from those symptoms would essentially be considered self-inflicted, as opposed to the stress from, say... severe burns causing the mitochondrial dysfunction.
Mitochondrial dysfunctions can cause physical illnesses being called "schizophrenia", or the "mental" illness called schizophrenia can result in mitochondrial dysfunction.
Either way, a mountain of studies show there IS usually mitochondrial dysfunction associated with the illness diagnosed as "schizophrenia", regardless of etiology.
Doctors generally do not treat for the mitochondrial dysfunctions so frequently associated with "psychiatric" illnesses. Researchers, so far, are just studying it, and some companies are investigating tests (metabolomic and proteomic tests) that will measure it. Integrative medical and anti-aging specialists, however, are quite familiar with some methods of treatment, as are specialists in mitochondrial dysfunctions (such as MELAS).
Here is a website for more information on the topic of symptoms, misdiagnosis, and how individualized symptoms are: MitoAction
Here are just a few of the many research studies about mitochondrial dysfunction and these "mental" illnesses.
- Mitochondrial dysfunction in schizophrenia: evidence for compromised brain metabolism and oxidative stress Mol Psychiatry. 2004; 9(7):684-97, 643 (ISSN: 1359-4184) (Says that almost half the altered proteins in patients diagnosed with "schizophrenia", identified by proteomics, were associated with mitochondrial function and oxidative stress responses).
- Quantitative analysis of mitochondrial DNA deletions in the brains of patients with bipolar disorder and schizophrenia. Int J Neuropsychopharmacol, 2005;8(4):515-522).
- Psychiatric symptoms in MELAS; a case report J Neurol Neurosurg Psychiatry 1998;64:692-693 ( May )
- Psychiatric comorbidity in 36 adults with mitochondrial cytopathies. CNS Spectr. 2007 Jun ; 12( 6): 429-38
- Mitochondrial Dysfunction as the molecular basis of bipolar disorder : therapeutic implications. CNS Drugs. 2007;21(1):1-11.
- Cerebral glucose utilization and platelet mitochondrial complex I activity in schizophrenia: A FDG-PET study. Prog Neuropsychopharmacol Biol Psychiatry . 2007 May 9; 31 (4): 807-13
- Mitochondrial-related gene expression changes are sensitive to agonal-pH state: implications for brain disorders. Mol Psychiatry. 2006 Jul ; 11( 7): 615, 663-79
- Increased oxidative stress in submitochondrial particles after chronic amphetamine exposure. Brain Res. 2006 Jun 30 ; 1097 (1): 224-9
- New variants in the mitochondrial genomes of schizophrenic patients. Eur J Hum Genet . 2006 May ; 14(5): 520-8
- Review of the literature on major mental disorders in adult patients with mitochondrial diseases. Psychosomatics. 2006 Jan-Feb ; 47( 1): 1-7
- The role of mitochondrial dysfunction in bipolar disorder. Drug News Perspect. 2006 Dec;19(10):597-602.
 Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family Journal of Affective Disorders 2002, Jun 21
(This research warns that mitochondrial diseases should be kept in mind in patients with a family history of "psychiatric problems" even in the absense of other signs of a mitochondrial disease.)
- The Stress Connection: Meeting Hormonal, Nutritional, and Metabolic Needs
- Is a Correctly Diagnosed Case of Schizophrenia, by Definition, 'Mental'?
- Is Schizophrenia a “Psychotic Disorder”?
- Specific Genes Inherited from Both Parents May Lead to Type of "Schizophrenia" (How schizophrenia can skip a generation)
- What are some genetic causes of psychosis?
- What is Epigenetics
- Brain Health: Nutrition and Epigenetics
- Mitochondrial Dysfunction and Psychiatric Symptoms
- Nutrition, genes, and brain dysfunctions: Folate
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Last Updated: 16 November 2011