Objective: The primary objective of this study was to evaluate the correlation of large mitochondrial DNA deletions in skin samples of people with HIV with measure of neuropathy and prior exposure to therapy. We hypothesized that deletions would be associated with the presence of neuropathy. As secondary objectives we determined the correlation of deletion burden with demographic data and neuropathy measures.

Methods: In this retrospective cohort study we measured the accumulation of large mtDNA deletions in skin biopsies from PWH recruited as part of the ACTG. Our cohort includes individuals with and without sensory neuropathy, as well as individuals with normal or abnormal skin biopsies. Skin biopsies, sural and peroneal nerve conduction studies, Total Neuropathy Score and deletion burden scores were measured along with baseline demographic data such as age, CD+4 cell count, viral counts and prior dNRTI exposures.

Results: Sixty-seven PWH were enrolled in the study. The mean age of the cohort (n=67) was 44 years (SD 6.8, range 32-65 years) and 9 were female. The mean CD4+ T-cell count was 168 cells/mm3 (SD 97, range 1 – 416) and mean viral load was 51129 copies/mL (SD 114586, range 147 – 657775). We determined that there was a correlation between the total mtDNA deletion and IENFD (r=-0.344, p=0.04) and sural nerve amplitude (r=-0.359, p=0.004).

Conclusions: IENFD and sural nerve amplitude both statistically correlate with mitochondrial mutation burden in PWH, specifically in those with HIV-SN as assessed by skin biopsy.