Mitochondrial displacement loop alterations are associated with endometriosis
Mitochondrial displacement (D-) loop alterations may constitute an inheritable risk factor for endometriosis. The analysis of D-loop alterations might help to identify patients at high risk for disease outcome.
Suresh Govatati, M.Sc., Mamata Deenadayal, M.D., Sisinthy Shivaji, Ph.D., Manjula Bhanoori, Ph.D.
Volume 99, Issue 7, Pages 1980-1986.e9, June 2013
To evaluate the association of mitochondrial displacement (D-) loop alterations with endometriosis in south Indian women.
Biochemistry and molecular biology laboratories.
Women with (n = 152) and without (n = 150) endometriosis of south Indian origin.
All women had a transvaginal ultrasound scan at screening followed by a laparoscopy to confirm the diagnosis (revised American Fertility Society stage III = 54; stage IV = 98).
Main Outcome Measure(s):
Genotyping of entire D-loop (1,124 bp) was carried out on genomic DNA of blood from cases and controls by polymerase chain reaction sequencing analysis.
Twelve novel mutations and 187 reported polymorphisms were identified in the D-loop region of cases and/or controls. The A189G, 310 C insertion, T16189C polymorphisms, and 189G/310TC/16189C haplotype have significantly higher frequency in cases compared with controls.
Mitochondrial D-loop alterations may constitute an inheritable risk factor for endometriosis. The analysis of D-loop alterations may help to identify patients at high risk for disease outcome.