Mitochondrial proteins can be coded for by the cell nucleus, or by the mitochondrial chromosome (which is only transmitted by the mother)
The nucleus codes for "metabolic transporters"
- ATP/ADP transporter, whose mutations can induce myopathies, cardiomyopathies, ocular paralysis, Sengers sd.
-Citrate transporter,whose mutations can contribute to the mental deficiency of DiGeorge sd.
- Deoxynucleotide transporter, which can be directly hit by drugs : certain antileukemic drugs like chlorodeoxyadenosine, certain reverse transcriptase inhibitors used for AIDS
- Pyruvate transporter the blocking of which by accumulation of phenylpyruvate might play a role in mental retardation risk of Phenylketonuria
The mitochondrial chromosome codes for the electron transporters. Its mutations can induce :
- A demyelinating encephalopathy : Leigh
- An optic atrophy : Leber
