Mitochondrial DNA (mtDNA) has become an increasingly important tool in forensic

genetics. While nuclear DNA is typically used for forensic analyses, mtDNA is often
used as a complementary method to address some limitations of nuclear DNA.
The mitochondrial genome consists of a circular DNA molecule that encodes 37 genes,
including 13 genes involved in oxidative phosphorylation, 22 tRNA genes, and 2 rRNA
genes. The mitochondrial genome is divided into three main regions, including the
control region (or D-loop), which is commonly sequenced in forensic investigations due
to its high level of variability. The control region is a non-coding region of the
mitochondrial genome that includes the origins of replication for the heavy and light
strands and the region responsible for regulating mitochondrial transcription and
replication.
Mitochondrial DNA (mtDNA) is unique in its mode of inheritance, as it is exclusively
maternally inherited. This means that mtDNA is passed down from a mother to all of
her offspring, regardless of their sex. This is because the sperm's mitochondria are
destroyed upon fertilization, and the embryo's mitochondrial DNA comes entirely from
the egg cell. Unlike nuclear DNA, which is a combination of DNA from both parents,
mtDNA remains unchanged throughout generations except for random mutations.
This article discusses the prevailing scientific understanding that the mitochondrial
DNA of eukaryotic organisms is inherited only from the mother, but recent evidence
suggests that paternal inheritance of mitochondrial DNA to offspring may occur in rare
cases. The mitochondrial DNA (mtDNA) in humans is typically inherited maternally,
but researchers have identified three families with mtDNA heteroplasmy that could not
be explained by maternal inheritance. The study identified two unrelated families in
which biparental mitochondrial transmission occurs.
Size: Nuclear DNA is much larger than mtDNA, with the human nuclear genome
containing about 3 billion base pairs, while mtDNA contains only 16,569 base pairs.
Copy number: Nuclear DNA is present in two copies in each cell (except for sperm and
egg cells), while mtDNA is present in multiple copies per cell, typically ranging from
hundreds to thousands. Inheritance pattern: Nuclear DNA is inherited from both
parents, while mtDNA is inherited only from the mother. Structure: Nuclear DNA is
linear and is organized into chromosomes, while mtDNA is circular and is present in
the mitochondria. Mutation rate: Nuclear DNA has a lower mutation rate than
mtDNA, with mutations occurring at a rate of about 1 in 30 million base pairs per
generation for nuclear DNA, while mtDNA has a higher mutation rate of about 1 in
1,000 base pairs per generation. Genetic variation: Nuclear DNA is highly variable
among individuals, with each person's nuclear DNA sequence being unique, while
mtDNA is relatively conserved and has limited variation among individuals. Use in
forensic investigations: Nuclear DNA is the primary tool used in forensic
investigations to identify individuals, while mtDNA is used when nuclear DNA analysis
is not possible, such as in cases where the sample is degraded or limited in quantity.