Hypoxia as a therapy for mitochondrial disease

Thriving on a breath of low oxygen Mitochondrial diseases are debilitating and largely untreatable. Most are caused by genetic mutations that impair the mitochondrial respiratory chain, which generates cellular energy. Because these diseases do not affect all tissues equally, it is thought that endogenous mechanisms exist that can help cells cope with mitochondrial defects. Jain et al. identified the hypoxia response, a mechanism that helps cells adapt when oxygen is limited, as a potent suppressor of mitochondrial dysfunction (see the Perspective by Shoubridge). Mouse models of the mitochondrial disease Leigh syndrome showed fewer symptoms and a dramatically extended life span when raised in a hypoxic environment. Science , this issue p. 54 ; see also p. 31