Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

ABSTRACT:

Objective

The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity.

Methods

We examined the phenotypic profile of 238 adult m.3243A>G carriers (patients and asymptomatic carriers) from the UK MRC Mitochondrial Disease Patient Cohort using the Newcastle Mitochondrial Disease Adult Scale. We modeled the role of risk factors for the development of specific phenotypes using proportional odds logistic regression. As mitochondria are under the dual control of their own and the nuclear genome, we examined the role of additive nuclear genetic factors in the development of these phenotypes within 46 pedigrees from the cohort.

SUBMITTER: Pickett SJ 

PROVIDER: S-EPMC5846390 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature