Next-generation sequencing identifies novel mitochondrial variants in pituitary adenomas.

ABSTRACT:

Purpose

Disrupted mitochondrial functions and genetic variants of mitochondrial DNA (mtDNA) have been observed in different human neoplasms. Next-generation sequencing (NGS) can be used to detect even low heteroplasmy-level mtDNA variants. We aimed to investigate the mitochondrial genome in pituitary adenomas by NGS.

Methods

We analysed 11 growth hormone producing and 33 non-functioning [22 gonadotroph and 11 hormone immunonegative] pituitary adenomas using VariantPro™ Mitochondrion Panel on Illumina MiSeq instrument. Revised Cambridge Reference Sequence (rCRS) of the mtDNA was used as reference. Heteroplasmy was determined using a 3% cutoff.

Results

496 variants were identified in pituitary adenomas with overall low level of heteroplasmy (7.22%). On average, 35 varia

SUBMITTER: Nemeth K 

PROVIDER: S-EPMC6647476 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature