Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.

ABSTRACT:

Purpose

Cowden syndrome results from germline mutations in the gene for phosphatase and tensin homologue deleted on chromosome 10 (PTEN) and from variants in succinate dehydrogenase B and D subunits. We hypothesized that succinate accumulation may be common among individuals with SDH variants/mutations and those with PTEN mutations.

Methods

Urine and blood were collected from individuals meeting full or partial Cowden syndrome diagnostic criteria or those with paraganglioma (PGL) or a known susceptibility paraganglioma-associated gene mutation, and succinate was measured. PTEN, SDHB, SDHC, and SDHD genes were sequenced from genomic DNA.

Results

Elevated plasma succinate was observed in 13/21 (62%) individuals with germline PTEN, SDHB, or SDHD mutations as compared wit

SUBMITTER: Hobert JA 

PROVIDER: S-EPMC4019996 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature