What Are ARS Genes?
Mitochondrial ARS genes all cause ultra-rare types of Mitochondrial Disease (also known as Mito). There are over 300 genes that cause Mito, and there are 19 Mito ARS genes. Mito is a metabolic condition that affects the way the body breaks down food and oxygen into energy at the cellular level. Mitochondria are essentially the "powerhouse" in our bodies or the "batteries" to sustain life. If the body does not receive the proper energy it needs to function organ systems begin to fail, like a cell phone dying because the battery needs to be charged. Mito ARS genes primarily affect the brain, but can involve multiple organ systems in the body.
Mito ARS genes are a family of related genes known as Aminoacyl-tRNA Synthetases (ARSs) -- it's a tongue twister. They are inherited in an autosomal recessive fashion, meaning the mutations are inherited from two parents who are carriers.
Mitochondrial ARS genes are named with an ARS2 naming system, with the exception of GARS & KARS.
See below the mitochondrial ARS genes included in this group.
ARS gene listing
Progressive leukoencephalopathy with Ovarian Failure (LKENP)
Leukoencephalopathy with brainstem, spinal cord involvement and lactate elevation (LBSL)
Progressive leukoencephalopathy with brainstem and spinal cord calcifications
Developmental delay, sensorineural hearing loss
Autosomal recessive spastic ataxia with
Infantile-onset developmental delay and epilepsy
Progressive spastic paresis
Hyperuricemia, Pulmonary hypertension, Renal failure in infancy, and Alkalosis (HUPRA)
Fatal mitochondrial encephalocardio-myopathy
Myopathy, Lactic Acidosis, Sideroblastic Anemia 2 (MLASA2)
Mitochondrial epileptic encephalopathy
Leukoencephalopathy with thalamus and brainstem involvement and high lactate elevation (LTBL)
Systemic mitochondrial disease
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome; Leigh syndrome
Hydrops, lactic acidosis, sideroblastic anemia, multisystem failure
Pontocerebellar hypoplasia type 6 (PCH6)
Fatal mitochondrial encephalomyopathy