Institut National De La Sante Et De La Recherche Medicale

Licentia, Ltd.

Licentia Oy

Tampereen Yliopisto

Howard T Jacobs

Pierre Jean Frederic Rustin

Emmanuel Philippe Dassa

Gerrit A J Hakkaart

Daniel Jose Moreno Fernandez-Ayala

Anja Rovio

Pierre Jean Frédéric Rustin

The invention relates to a method for combating disorders affecting the mitochondrial oxidative phosphorylation system by allotopic expression of the cyanide-insensitive alternative oxidase (AOX) in human cells. The successful expression of AOX in human cells and inhas been shown to confer spectacular cyanide-resistance to mitochondrial substrate oxidation, alleviate oxidative stress, apoptosis susceptibility and metabolic acidosis. AOX is well tolerated when expressed ubiquitously in the whole organism. AOX expression is a valuable tool to limit the deleterious consequences of respiratory chain deficiency.

Alternative oxidase and uses thereof

The present invention relates to a novel diagnostic method for the detection of infertility in males. In particular, the present invention relates to a diagnostic method for detecting the presence or absence of a mutation or mutations in the POLG gene encoding mitochondrial DNA polmerase in a biological sample. The invention relates also to the use of a mutant POLG gene in the detection of infertility in males and in the screening of human populations for the presence of such mutation or mutations as a predictive test for male infertility. The invention also relates to the use of the POLG gene as an indicator of other pathological conditions associated with or related to male infertility, including those manifesting in women.

Method of diagnosing and screening for male infertility through mutations in POLG

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Tampere, Finland

Howard T Jacobs