Adenine Nucleotide Translocase, Mitochondrial Stress, and Degenerative Cell Death

Table 1

Ant-associated human diseases.

Disease	Mutation	Pathogenic Mechanism	Characteristics
adPEO	𝑎𝑛𝑡1^𝐴90𝐷, 𝑎𝑛𝑡1^𝐿98𝑃, 𝑎𝑛𝑡1^𝐷104𝐺, 𝑎𝑛𝑡1^𝐴114𝑃, 𝑎𝑛𝑡1^𝑉289𝑀	Membrane stress; altered transport properties	Adult/late-onset, mitochondrial myopathy; muscle weakness (especially in the eyes); sensory ataxia; mtDNA deletions
Cancer	Overexpression of Ant2	Reversed ADP/ATP exchange by Ant2	The adaption to intratumoral hypoxia of cancer cells
FSHD	Deletions of subtelomeric repeats on chromosome IV	DUX4 overexpression; possibly ANT1 overexpression	Adult-onset disease, muscle weakness in face, shoulders, and hips, oxidative stress
Mitochondrial myopathy and cardiomyopathy	ANT1 null mutations	Defect in nucleotide transport	Cardiomyopathy, myopathy, exercise intolerance, and lactic acidosis
	𝑎𝑛𝑡1^𝐴123𝐷	Defect in nucleotide transport; other mechanisms?
Senger’s syndrome	Mutation in AGK affecting Ant biogenesis leads to depletion of Ant1	Defect in nucleotide transport	Cardiac hypertrophy, mitochondrial myopathy, cataracts, lactic acidosis