Mitochondrial DNA Testing

Mitochondrial DNA was unheard of until it was discovered in 1963 that the mitochondria have its own unique, separate DNA make up. It is also referred to as maternal DNA. Mitochondrial DNA (mtDNA) testing is a genetic test performed to know more about the mother's side of the family. This article will give you an idea of what this is all about and how it is different from nuclear DNA testing.

The mtDNA is passed on by the mother to her children (both sons and daughters), but only the female children will be passing the mtDNA to their own offspring. This happens during fertilization where the tail of the father's sperm cell containing the mtDNA is left behind, and only the mother's mtDNA is then passed on to their offspring.

Nuclear DNA is a mix of both the mother's and the father's DNA; compared to mtDNA, which is only inherited from the mother. Similar to nuclear DNA testing, mtDNA testing is done by collecting a DNA sample - blood or a cheek swab. For mtDNA, a cheek swab is more preferred by doctors to produce results that are more accurate.

An mtDNA test is usually done as a way of establishing a direct family link to the mother's side of the family by an individual. This particular DNA testing is also done to trace an individual's ancestry in relation to the mother's family. It is also done in forensic investigations.

In the 1980s, a well-known doctor pioneered the use of mtDNA testing in solving cases where the parents of a child are not known. The mtDNA provided evidence to determine an individual's real mother, or grandmother. During that same time, doctors concluded that since mtDNA is directly passed by the mother to her offspring from generation to generation, even maternal aunts and uncles could be a match to that of the child who has missing parents.

One last thing, in addition to ancestry testing, mtDNA testing can be used to find mutations in the mitochondria that could have adverse effects on the development and functions of the body and its systems. Mutations have been observed in common diseases like dementia, diabetes, and kidney failure.