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.

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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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(13)00278-1/fulltext


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