What does the POLG gene do?
What does the POLG gene do?
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising from mtDNA deletions.
What is POLG gene mutation?
Mutations in the POLG gene are frequently responsible for an eye condition called progressive external ophthalmoplegia, another POLG-related disorder. This condition weakens the muscles that control eye movement and causes the eyelids to droop (ptosis).
What is POLG-related disorder?
POLG-related disorders comprise a continuum of broad and overlapping phenotypes that can be distinct clinical entities or consist of a spectrum of overlapping phenotypes. Presentations within a given family are usually similar.
Does mitochondrial disease run in families?
There is a 50% chance that each child in the family will inherit a mitochondrial disease. Mitochondrial inheritance: In this unique type of inheritance, the mitochondria contain their own DNA. Only mitochondrial disorders caused by mutations in the mitochondrial DNA are exclusively inherited from mothers.
Can a father pass along a mitochondrial gene disorder?
Fathers Can Pass Mitochondrial DNA to Children Researchers identify unique cases in which people inherited mitochondrial DNA not just from their mother but also from their father.
Can a child inherit mitochondrial disease from father?
Mitochondrial inheritance: In this unique type of inheritance, the mitochondria contain their own DNA. Only mitochondrial disorders caused by mutations in the mitochondrial DNA are exclusively inherited from mothers.
Is mitochondrial DNA inherited from mother only?
A tenet of elementary biology is that mitochondria — the cell’s powerhouses — and their DNA are inherited exclusively from mothers. A provocative study suggests that fathers also occasionally contribute.