Mitochondrial displacement loop alterations are associated with endometriosis

Capsule:
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.

Authors:
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

Abstract:

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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