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Plusieurs méthodes ont été proposées pour la mesure in vivo, la prédiction et la réduction des émissions de méthane entérique (eCH4) des ruminants. La plupart de ces méthodes sont coûteuses, techniquement complexes et parfois non adaptées aux spécificités des systèmes d’élevage en Afrique subsaharienne (ASS). L’objectif de cette synthèse est d’analyser les différentes techniques de mesure individuelle selon les conditions d’élevage en ASS. Les techniques de mesure individuelle in vivo regroupent la chambre respiratoire, la hotte ventilée, le système GreenFeed® (C-Lock) et l’hexafluorure de soufre comme traceur. Elles sont discutées et classées selon le terrain d’utilisation. Les approches de mesure indirecte de eCH4 s’appuient sur des proxys (ou prédicteurs) issus de différentes matrices biologiques. En ASS, les proxys susceptibles d’être utilisés dans les différentes conditions d’élevage sont les caractéristiques de l’ingéré (quantité, composition), du lait (quantité, composition globale estimée par spectres MIR), des fèces (archéols, composition globale estimée par spectres SPIR) ou des gaz expirés. Par ailleurs, les stratégies potentielles de réduction de eCH4 adaptées en ASS sont 1) l’utilisation de légumineuses arbustives, d’aliments concentrés à base de sous-produits, de coproduits et résidus de cultures, et de fourrages conservés ; 2) l’amélioration du pâturage ; 3) le remplacement des animaux improductifs ; 4) le maintien du bon état sanitaire des animaux ; et 5) la réduction de l’âge au premier vêlage des femelles.

Background Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However, the disease causing gene remains unknown in many families. The objective of the present study was to identify the molecular cause of non-syndromic LHON-like disease in siblings born to non-consanguineous parents of French origin. Methods We used a combination of genetic analysis (gene mapping and whole-exome sequencing) in a multiplex family of non-syndromic HON and of functional analyses in patient-derived cultured skin fibroblasts and the yeast Yarrowia lipolytica. Results We identified compound heterozygote NDUFS2 disease-causing mutations ( p.Tyr53Cys; p.Tyr308Cys). Studies using patient-derived cultured skin fibroblasts revealed mildly decreased NDUFS2 and complex I abundance but apparently normal respiratory chain activity. In the yeast Y. lipolytica ortholog NUCM, the mutations resulted in absence of complex I and moderate reduction in nicotinamide adenine dinucleotide-ubiquinone oxidoreductase activity, respectively. Conclusions Biallelism for NDUFS2 mutations causing severe complex I deficiency has been previously reported to cause Leigh syndrome with optic neuropathy. Our results are consistent with the view that compound heterozygosity for severe and hypomorphic NDUFS2 mutations can cause nonsyndromic HON. This observation suggests a direct correlation between the severity of NDUFS2 mutations and that of the disease and further support that there exist a genetic overlap between non-syndromic and syndromic HON due to defective mitochondrial function. [ABSTRACT FROM AUTHOR]

Background Inherited optic neuropathy has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However, the disease causing gene remains unknown in many families. Methods We used exome sequencing in order to identify the gene responsible for isolated or syndromic optic atrophy in five patients from three independent families. Results We found homozygous or compound heterozygous missense and frameshift mutations in the gene encoding mitochondrial aconitase (ACO2), a tricarboxylic acid cycle enzyme, catalysing interconversion of citrate into isocitrate. Unlike wild type ACO2, all mutant ACO2 proteins failed to complement the respiratory growth of a yeast aco1-deletion strain. Retrospective studies using patient-derived cultured skin fibroblasts revealed various degrees of deficiency in ACO2 activity, but also in ACO1 cytosolic activity. Conclusions Our study shows that autosomal recessive ACO2 mutations can cause either isolated or syndromic optic neuropathy. This observation identifies ACO2 as the second gene responsible for non-syndromic autosomal recessive optic neuropathies and provides evidence for a genetic overlap between isolated and syndromic forms, giving further support to the view that optic atrophy is a hallmark of defective mitochondrial energy supply. [ABSTRACT FROM AUTHOR]

In Africa, a wide variety of diets (forage + crop co-products or other agricultural by-products) is being used by livestock farmers in different production systems to adapt to climate change. This study aimed to assess the performance of various local feeding strategies on Sudanese Fulani zebu cattle. Two experiments were carried out on 10 steers aged initially 33 months (142 kg body weight - BW). The animals were fed eight different diets at an intake level of 3.2% LW in dry matter (DM), including two control diets of 100% rangeland forage (100% RF) and six experimental diets made up of forage and crop co-products (75:25 DM ratio). In the first experiment, the control diet was made up of rangeland forage (RF) and supplements consisted of four cereal co-products (CC), i.e. maize, sorghum, millet, and rice straws. In the second experiment, the control diet consisted of Panicum maximum (Pmax) hay, and the supplements tested were two legume co-products (LC), i.e. cowpea and peanut haulms. Each experiment lasted 3 weeks, including 2 weeks of adaptation to the diet and 1 week of data collection on individual animals (intake, apparent digestibility, and enteric methane). The NDF content of the diets was different within each experiment ( p  < 0.05). Among diets containing CC, DM intake [g/kg BW] was significantly higher (+31%; p  = 0.025) for the diet containing rice straw than for the other diets, which showed similar levels to the RF diet. Among diets containing LC, intake was significantly higher ( p  = 0.004) than for the Pmax diet. Intake was higher for the peanut haulm diet than for the cowpea haulm diet. The DM digestibility was similar between the different diets in each experiment. Enteric methane (eCH 4 ) yield [g/kg DMI] from the CC and LC-containing diets were reduced by an average of 23% and 20% compared to the RF and Pmax control diets respectively. Raising awareness among agro-pastoralists about the use of crop co-products offers real prospects for eCH 4 emissions mitigation in the Sahel region.

Leber congenital amaurosis is a severe hereditary retinal dystrophy responsible for neonatal blindness. The most common disease-causing mutation (c.2991+1655A>G; 10-15%) creates a strong splice donor site that leads to insertion of a cryptic exon encoding a premature stop codon. Recently, we reported that splice-switching oligonucleotides (SSO) allow skipping of the mutant cryptic exon and the restoration of ciliation in fibroblasts of affected patients, supporting the feasibility of a SSO-mediated exon skipping strategy to correct the aberrant splicing. Here, we present data in the wild-type mouse, which demonstrate that intravitreal administration of 2'-OMePS-SSO allows selective alteration of Cep290 splicing in retinal cells, including photoreceptors as shown by successful alteration of Abca4 splicing using the same approach. We show that both SSOs and Cep290 skipped mRNA were detectable for at least 1 month and that intravitreal administration of oligonucleotides did not provoke any serious adverse event. These data suggest that intravitreal injections of SSO should be considered to bypass protein truncation resulting from the c.2991+1655A>G mutation as well as other truncating mutations in genes which like CEP290 or ABCA4 have a mRNA size that exceed cargo capacities of US Food and Drug Administration (FDA)-approved adeno-associated virus (AAV)-vectors, thus hampering gene augmentation therapy.