Mitochondrial displacement loop alterations are associated with endometriosis
Suresh Govatati1, Mamata Deenadayal, Sisinthy Shivaji
1Department of Biochemistry, Osmania University, Hyderabad, India.
Objective:
To evaluate the association of mitochondrial displacement (D-) loop alterations with endometriosis in south Indian women.
Design:
Case-control study.
Setting:
Biochemistry and molecular biology laboratories.
Patient(S):
Women with (n = 152) and without (n = 150) endometriosis of south Indian origin.
Intervention(S):
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.
Result(S):
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.
Conclusion(S):
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.
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