
ars genes
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 Mitochondrial 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
AARS2
Progressive leukoencephalopathy with Ovarian Failure (LKENP)
Cardiomyopathy
DARS2
Leukoencephalopathy with brainstem, spinal cord involvement and lactate elevation (LBSL)
FARS2
Alpers encephalopathy
HARS2
Perrault syndrome
KARS
Progressive leukoencephalopathy with brainstem and spinal cord calcifications
MARS2
Developmental delay, sensorineural hearing loss
Autosomal recessive spastic ataxia with
leukoencephalopathy
PARS2
Alpers syndrome
Infantile-onset developmental delay and epilepsy
SARS2
Progressive spastic paresis
Hyperuricemia, Pulmonary hypertension, Renal failure in infancy, and Alkalosis (HUPRA)
VARS2
Fatal mitochondrial encephalocardio-myopathy
YARS2
Myopathy, Lactic Acidosis, Sideroblastic Anemia 2 (MLASA2)
CARS2
Mitochondrial epileptic encephalopathy
EARS2
Leukoencephalopathy with thalamus and brainstem involvement and high lactate elevation (LTBL)
GARS
Systemic mitochondrial disease
Cardiomyopathy
IARS2
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome; Leigh syndrome
LARS2
Perrault syndrome
Hydrops, lactic acidosis, sideroblastic anemia, multisystem failure
NARS2
Alpers syndrome
RARS2
Pontocerebellar hypoplasia type 6 (PCH6)
TARS2
Fatal mitochondrial encephalomyopathy
WARS2
.