A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions

Pearson syndrome (PS) is a multisystem disease including refractory anemia, vacuolization of marrow precursors and pancreatic fibrosis. The disease starts during infancy and affects various tissues and organs, and most affected children die before the age of 3 years. Pearson syndrome is caused by de novo large-scale deletions or, more rarely, duplications in the mitochondrial genome. In the present report, we described a Pearson syndrome patient harboring multiple mitochondrial deletions which is, in our knowledge, the first case described and studied in Tunisia. In fact, we reported the common 4.977 kb deletion and two novel heteroplasmic deletions (5.030 and 5.234 kb) of the mtDNA. These deletions affect several protein-coding and tRNAs genes and could strongly lead to defects in mitochondrial polypeptides synthesis, and impair oxidative phosphorylation and energy metabolism in the respiratory chain in the studied patient.     

A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNASer(UCN) genes in a patient with hearing impairment,diabetes and congenital visual loss

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) has been described in association to different mitochondrial multisystem syndromes, often involving the central nervous system, neuromuscular, or endocrine organs. In this study, we described a Tunisian young girl with hearing impairment, congenital visual loss and maternally inherited diabetes. No mutation was found in the mitochondrial tRNA^Leu(UUR) and the 12S rRNA genes. However, we detected the m.7444G>A mutation in the mitochondrial COI/tRNA^Ser(UCN) genes. This mutation eliminates the termination codon of the MT-CO1 gene and extends the COI polypeptide by three amino acids (Lys–Gln–Lys) to the C-terminal. The whole mitochondrial genome screening revealed the presence of a novel mutation m.6498C>A (L199I) in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX). This “probably damaging” transversion affects a highly conserved domain and it was absent in 200 Tunisian controls. The studied patient was classified under the haplogroup H2a.     

Response of two tomato cultivars to field-applied proline under irrigation with saline water: Growth,chlorophyll fluorescence and nutritional aspects

The response of tomato (Solanum lycopersicum L.) to abiotic stress has been widely investigated. Recent physiological studies focus on the use of osmoprotectants to ameliorate stress damage, but experiments at a field level are scarce. Two tomato cultivars were used for an experiment with saline water (6.57 dS m^?1) and subsurface drip irrigation (SDI) in a silty clay soil. Rio Grande is a salinity-tolerant cultivar, while Heinz-2274 is the salt-sensitive cultivar. Exogenous application of proline was done by foliar spray at two concentrations (10 and 20 mg L^?1) during the flowering stage. Control plants were treated with saline water without proline. Proline at the lower concentration (10 mg L^?1) increased dry mass of different plant organs (leaves, stems, and roots) and it improved various chlorophyll a fluorescence parameters compared with controls. Regarding mineral nutrition, K⁺ and P were higher in different organs, while low accumulation of Na⁺ occurred. However, Mg²⁺ was very high in all tissues of Rio Grande at the higher concentration of proline applied. Thus, the foliar spray of proline at 10 mg L^?1 increased the tolerance of both cultivars. The growth of aboveground biomass of Heinz-2274 was enhanced by 63.5%, while Rio Grande improved only by 38.9%.     

A method for recovery of enteroviruses from milk]

A method of detection of enteric viruses in milk was studied. The high protein content of milk and the protein nature of enterovirus allowed the detection of these viruses using the organic acid flocculation method. The poliovirus type 1 (Mahoney strains) and the E.C.H.O.1 isolated from the environment were used as virus model and were inoculated to creamed, half-creamed and whole UHT commercialized milk. The method consists on a milk sample clarification with acid precipitation and centrifugation. The clarified extract is reduced to a final volume of 10 to 15 ml after addition of beef extract powder and protein precipitation. This technique allows the recovery of 26 to 36% of poliovirus type 1 and 10 to 46% of E.C.H.O.1 viruses. In this work, the ferric chloride (FeCl3), added in 0.5 to 1 mM final concentration, was used as an adjuvant for the organic acid precipitation.