No Evidence for an mtDNA Role in Sperm Motility: Data from Complete Sequencing of Asthenozoospermic Males

Abstract

The first complete mitochondrial DNA (mtDNA) sequences (approximately 16,569 bp) in 20 patients with asthenozoospermia and a comparison with 23 new complete mtDNA sequences in teratoasthenozoospermic individuals, confirmed no sharing of specific polymorphisms or specific mitochondrial lineages between these individuals. This is strong evidence against the accepted claim of a major role played by mtDNA in male fertility, once supported by haplogroup association studies based on the screening of hypervariable region I. The hypothesis of maternally driven selection acting in male reproductive success must thus be treated with caution.

Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal

“…The mutations detected in region 11531-12040 are concordant with the haplogroup status, as originally inferred from HVS-I and HVS-II, i.e., the root of haplogroup R0 (embracing branches HV0 and H) is indistinguishable from rCRS within that fragment, haplogroup T2 bears the characteristic 11812 transition, and in haplogroup U6a1 the 16239 and 11938 transitions seem to be linked (26). Not a single occurrence of the 11994 transition was found here or in the mtDNAs of another 20 asthenozoospermic and 23 teratoasthenozoospermic men (27). Therefore C11994T cannot play a dominant role in oligoasthenozoopermy or other forms of asthenozoopermy, at least in Portugal, and it is therefore doubtful that this mutation should constitute the single cause in India.…”

The search of ‘novel’ mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor

“…Position Change Gene Occurrences in the literature a MITOMAP tree b Haplogroup c [3] 869 C→T 12S rRNA [9]; [10]; [11]; [12] Yes (E) E1 (2); L2c; ? [3] 1391 T→C 12S rRNA [13] (2); [14] (3); [15]; [8]; [16]; [17] Yes (R1) B4b1b (3); Q1 (4); R1 (2) [3] 1556 C→T 12S rRNA [18] (cf. [19]) N o ?…”

Les souris génétiquement modifiées au service de la reproduction

“…Cependant, selon les cohortes de patients étudiés, ces résultats ont été remis en question pour plusieurs de ces gènes [22][23][24]. Seule la démonstration que ces modifications de séquence génétique affecte la fonction du produit du gène concerné pourrait permettre de conclure à une mutation liée à une pathologie.…”