The disease

This disorder has no name, it is not like measles or small pox, its definition is only based on the deficiency:

COMPLEX I DEFICIENCY OF THE MITOCHONDRIAL RESPIRATORY CHAIN

It may be tough to briefly and correctly explain it’s nature. We can say that the mitochondrion is like a cell in our cell, responsible for energy production for the whole organism.

Mitochondria produce energy thanks to the passage of electrons through different proteins which form the mitochondrial respiratory chain.

Mitochondria have their own DNA, distinct and independent from the classic nuclear DNA. Mitochondrial DNA has16569 base pairs which code for 22 transfer RNA, 2 ribosomal RNA and 13 proteins. The latter are all involved in building the respiratory complexes.

Respiratory complexes are four molecular entities, which each complex being formed by different subunits encoded by both nuclear and mitochondrial genes. Complex II only is made by subunits which are entirely encoded by nuclear genes.

Mutations in the genes coding for proteins or transfer RNA impair functioning of the respiratory chain and, in turn, mitochondrial energy production. This leads to disease pathogenesis.

Because of their high energy expenditure, the organs which are more sensitive to mitochondrial energy failure are the brain, muscles, hearth, kidney and endocrine glands.

In conclusion, mitochondrial diseases are genetic disorders. At present the are about 7000 genetic diseases with only 933 being identifiable by means of genetic test. Sadly, much less than 933 can be successfully treated.

Congenital immunodeficiency, Duchenne muscular dystrophy, thalassemia,  emophylia and metachromatic leucodystrophy are among the most common genetic diseases.