Abstract
ObjectiveTo study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known.MethodsClinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact of gender, puberty, and pregnancy on disease onset and deterioration.ResultsWe found that disease onset early in life was common in both sexes but there was also a second peak in females around the time of puberty. Further, pregnancy had a negative impact with 10 of 14 women (71%) experiencing disease onset or deterioration during pregnancy.InterpretationGender clearly influences the expression of POLG disease. While onset very early in life was common in both males and females, puberty in females appeared associated both with disease onset and increased disease activity. Further, both disease onset and deterioration, including seizure aggravation and status epilepticus, appeared to be associated with pregnancy. Thus, whereas disease activity appears maximal early in life with no subsequent peaks in males, both menarche and pregnancy appear associated with disease onset or worsening in females. This suggests that hormonal changes may be a modulating factor.
Highlights
Mitochondria are essential organelles found in almost all human cells
In the whole study cohort of 155 individuals, age of disease onset extended from birth to 71 years with median age of onset 10 years
Median age of disease onset for males was 5 years, while for females it was 13 years
Summary
Mitochondria are essential organelles found in almost all human cells. The most fundamental function of mitochondria is energy production through the process of oxidative phosphorylation (OXPHOS).[1] The respiratory chain conserves the energy released through intermediary metabolism and the ATP synthase uses it to generate adenosine triphosphate (ATP). Thirteen of the protein subunits of the OXPHOS system are encoded by mitochondrion’s own DNA (mtDNA), while all the remaining subunits are encoded by the nuclear DNA (nDNA).[2]. Mitochondrial dysfunction can present at any age with heterogeneous clinical manifestations and multi-organ involvement. Mitochondrial disease appears predominantly to affect tissues with high energy requirement, such as the brain, liver, and heart.[3,4]
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