Where is POLG gene located?
The POLG gene is located on the long arm of chromosome 15, and encodes polymerase γ. Polymerase γ is the sole polymerase for mitochondrial DNA replication.
What causes POLG mutation?
In Alpers’ disease, mutations in POLG are inherited in an autosomal recessive fashion, typically from parents who are silent carriers. Homozygous or compound heterozygous mutations cause severe deficiency of polymerase γ, which leads to depletion of mitochondrial DNA with resulting mitochondrial dysfunction.
What is POLG real name?
POLG (DNA Polymerase Gamma, Catalytic Subunit) is a Protein Coding gene.
What are symptoms of Alpers disease?
Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).
What are the different types of mitochondrial diseases?
The list of types of Mitochondrial diseases mentioned in various sources includes: Leber’s hereditary optic atrophy. Kearns-Sayre Syndrome. Progressive external ophthalmoplegia. Myoclonus epilepsy.
What are some examples of mitochondrial disorders?
Examples of mitochondrial diseases include: Mitochondrial myopathy. Diabetes mellitus and deafness (DAD) this combination at an early age can be due to mitochondrial disease. Diabetes mellitus and deafness can be found together for other reasons.
What are diseases caused by mitochondria?
Defects in nuclear-encoded mitochondrial genes are associated with hundreds of clinical disease phenotypes including anemia, dementia, hypertension, lymphoma, retinopathy, seizures, and neurodevelopmental disorders.
What are symptoms of mitochondrial dysfunction?
Mitochondrial diseases present from early childhood to adulthood. Depending on the specific type of mitochondrial disease, common symptoms include muscle weakness, imbalance, gastrointestinal problems, poor growth, liver disease, heart disease, diabetes, visual and hearing issues, lactic acidosis , and developmental delays.