Elucidation of the role of protein SLC25a46

Elucidation of the role of protein SLC25a46 in the appearance of neuropathies and the turning calve syndrome

By using genetic approaches, genome editing and functional genomics, the G2B and MoDiT teams identified and validated the role of a gene coding for the mitochondrial protein SLC25a46 in neuropathies of young calves in the Rouge des Prés breed.

The transposition of this mutation in mice by genome editing recapitulated the phenotypes observed in cattle and allowed to analyze more precisely, in partnership with several INSERM research teams, the metabolic disorders that are induced. It was shown that defects in fusion/fission mitochondrial balance and the metabolism of these organelles leads to the death of the young mice at about three weeks of age. These results provide new knowledge on this protein and support recent observations of their implication in similar human pathologies.

Reference

Duchesne A, Vaiman A, Castille J, Beauvallet C, Gaignard P, Floriot S, Rodriguez S, Vilotte M, Boulanger L, Passet B, Albaric O, Guillaume F, Boukadiri A, Richard L, Bertaud M, Timsit E, Guatteo R, Jaffrézic F, Calvel P, Helary L, Mahla R, Esquerré D, Péchoux C, Liuu S, Vallat JM, Boichard D, Slama A, Vilotte JL. Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. PLoS Genet. 2017 Apr 4;13(4):e1006597.

Modification date : 14 September 2023 | Publication date : 05 May 2017 | Redactor : A; Duchesne, J-L. Vilotte - Edition P. Huan