Diagnostic Challenges in Mitochondrial Disease

Dabke, Partha and Rao, Pragna (2012) Diagnostic Challenges in Mitochondrial Disease. International Journal of Health and Rehabilitation Sciences, 1 (1). pp. 25-31.

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Abstract

It takes about 3000 genes to make a mitochondrion. Mitochondrial DNA encodes just 37 of these genes; the remaining genes are encoded in the cell nucleus and the resultant proteins are transported to the mitochondria. Only about 3% of the genes necessary to make a mitochondrion (100 of the 3000) are allocated for making ATP. More than 95% (2900 of 3000) are involved with other functions tied to the specialized duties of the differentiated cell in which it resides. Mitochondria contain the rate-limiting enzymes for pyrimidine biosynthesis (dihydroorotate dehydrogenase) and heme synthesis (d-amino levulinic acid synthetase) required to make hemoglobin. In the liver, mitochondria are specialized to detoxify ammonia in the urea cycle. Mitochondria are also required for cholesterol metabolism, for estrogen and testosterone synthesis, for neurotransmitter metabolism, and for free radical production and detoxification in addition to oxidizing the lipids, protein, and carbohydrates. Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multi-organ system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagnostic laboratory modalities can often provide sufficient evidence to establish an etiology. These include blood and tissue histochemical and analyte measurements, neuroimaging, provocative testing, enzymatic assays of tissue samples and cultured cells, as well as DNA analysis.

Item Type: Article
Uncontrolled Keywords: Mitochondrial disease, Genetics.
Subjects: Medicine > KMC Manipal > Biochemistry
Depositing User: KMC Manipal
Date Deposited: 05 Oct 2012 06:21
Last Modified: 05 Oct 2012 06:21
URI: http://eprints.manipal.edu/id/eprint/77341

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