POLG

(redirected from POLG1)

POLG

A gene on chromosome 15q25 that encodes the catalytic subunit of mitochondrial DNA polymerase involved in replication of mitochondrial DNA.

Molecular pathology
POLG mutations cause progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS) and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).
References in periodicals archive ?
We reported in 2009 how his sister Stacey-Jane succumbed to the generative disease Alpers' Syndrome and POLG1.
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
The ten autosomal genes encode key proteins for mitochondrial maintenance and function including: POLG1, DGUOK, TP, TK2, SURF1, SCO1, SCO2, COX10, BCS1L, and SLC25A4.
The former pupil at Blyth Community College was eventually diagnosed with a cross between the degenerative diseases Alpers' syndrome and POLG1.
She had one strand of Alpers and one strand of POLG1.
BRAVE Stacey-Jane Iveson suffered from a combination of POLG1 and Alpers' Syndrome.
POLG1 is a mitochondrial disease that leads to poor growth and the loss of muscle coordination as well as muscle weakness and learning disabilities.
In POLG1 there is a mutation of the mitochondria that is inherited from DNA passed down from the mother and father.