Mitochondrial transporters and their diseases
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Lactic acidosis is a sign of mitochondrial
dysfunction
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
- A myoclonic epilepsy : MERRF, MELAS
- An optic atrophy : Leber

This is only a very incomplete list of mitochondrial diseases. More exhaustive lists can be found in many sources, especially the site of the United Mitochondrial Disease Foundation
Mitochondria
Mitochondria & ATP
Metabolic transporters
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