Two novel mutations in COII and tRNAHis mitochondrial genes in asthenozoospermic infertiles men

‘Infertile’ studies on mitochondrial DNA variation in asthenozoospermic Tunisian men

“…Baklouti-Gargouri et al also mention in the different publications the use of a control group of fertile men in order to investigate the incidence of their candidate mutations in healthy individuals. The sample size for this control group is 100 in the three initial publications [10] , [11] , [27] ; it grew to 150 in Baklouti-Gargouri et al [12] , and for some unexplained reason, these controls were omitted in the last publication from 2014 [16] . Curiously, in this latter publication, the authors used their normospermic infertile men as controls.…”

“…In all five publications, controls were used exclusively to claim that their best candidate causal mutation was not present in their controls; e.g. “ This mutation [m.8021A>G] was absent in normospermic patients, suggesting that it could be associated to asthenospermia ” [16] . Association tests were never carried out, nor estimates of risk for their candidate variants.…”

“…We reviewed five articles published by the same research group from Tunisia. These articles were published in 2012 [27] , 2013 [10] , [11] , and 2014 [12] , [16] . Note that one of the 2014 papers [16] was indexed in PubMed using the first names of the authors instead of the family names, but the authors are virtually the same and following the same order in the five publications.…”

“…During the last few decades, variation in the mitochondrial DNA (mtDNA) molecule has been studied in the context of many complex multifactorial diseases [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] . In this regard, the search for mtDNA variation related to infertility has also received the attention of a vast body of literature [10] , [11] , [12] , [13] , [14] , [15] , [16] , [36] . Some of the positive findings were critically questioned by others [13] , [17] , who pointed out problems of different nature, including methodological and theoretical misconceptions, as well as important statistical deficiencies [7] , [18] , [19] , [20] , [21] .…”

Caracterização clínica, laboratorial e de neuroimagem de pacientes com doença mitocondrial associada à mutação m.3243A>G

“…Disfunções mitocondriais podem ter um papel fundamental na infertilidade masculina. Estudos revelam que a disfunção da cadeia respiratória mitocondrial e acúmulo de radicais livres afetam negativamente a concentração dos espermatozoides (devido à apoptose e parada da espermatogênese), a morfologia e, principalmente, a mobilidade dessas células[117][118][119][120][121][122] . Até o momento não há relatos na literatura de azoospermia não obstrutiva relacionada às doenças mitocondriais.…”