What does mtDNA do, not just on holidays, but all the time?
Here’s an example from a publication:
Maternally inherited diabetes and deafness: a diabetic subtype associated
with a mutation in mitochondrial DNA.
Maassen JA, van den Ouweland JM, 't Hart LM, Lemkes HH
Department of Medical Biochemistry, Leiden University, The Netherlands.
Diabetes mellitus is a common disease with variations in its clinical expression and different modes of pathogenesis. The
purpose of this review is to discuss a recently identified diabetic subtype. Based on the triad diabetes, maternal inheritance and impaired hearing in this subtype we have proposed the name Maternally Inherited Diabetes and Deafness (MIDD). This
diabetic subtype associates in the vast majority of cases with a single mutation in mitochondrial DNA, at position 3243. The
clinical presentation of MIDD which can be IDDM-like or NIDDM-like, its frequency of occurrence, possible pathogenic
mechanisms and the contribution of other mitochondrial DNA mutations to the development of diabetes will be discussed.
I understood that mtDNA helped produce energy to do the business of the cell - now here it is causing what we call diseases - now, it has locations, numbers like 3423, and diseases?
Are you driving with your eyes open or are you using The Force? - A. Foley
Variation in the human mitochondrial genome (mtDNA) is now routinely described and used to infer the histories of peoples, by
means of one of two procedures, namely, the assaying of RFLPs throughout the genome and the sequencing of parts of the control region (CR). Using 95 samples from the Near East and northwest Caucasus, we present an analysis based on both systems, demonstrate their concordance, and, using additional available information, present the most refined phylogeny to date of west Eurasian mtDNA. We describe and apply a nomenclature for mtDNA clusters. Hypervariable nucleotides are identified, and the relative mutation rates of the two systems are evaluated. We point out where ambiguities remain. The identification of signature mutations for each cluster leads us to apply a hierarchical scheme for determining the cluster composition of a sample of Berber speakers, previously analyzed only for CR variation. We show that the main indigenous North African cluster is a sister group to the most ancient cluster of European mtDNAs, from which it diverged approximately 50,000 years ago.
PMID: 9915963, UI: 99115101
Are you driving with your eyes open or are you using The Force? - A. Foley
Mitochondria are “organelles” (distinct structures) found in all animal cells (plant cells have chloroplasts). They are responsible for generating the cell’s energy using a complicated set of chemical reactions.
Mitochondria have their own DNA (mtDNA). They reproduce and operate without regard to the “normal” DNA in the cell’s nuclus. All of your mitochondria are “daughter’s” of the mitochondria in the egg from which you sprang. The sperm does not contribute mitochondria.
Since each animal’s mtDNA comes from one parent (the mother), and indeed, is an exact copy, except for mutations, of the mother’s mtDNA, it is much easier to calculate genetic drift by counting and correlating differences in two individuals.
If you’re a guy, too bad. Any beneficial mutation in your mtDNA will die with you!
“Reality is that which, when you stop believing in it, doesn’t go away”. - Phillip K. Dick