Clinical and genetic characteristics of disorders of sex development in Sudanese patients

Given the scarce data on DSD in Sudan, we aimed to characterize DSD's clinical and genetic profile in Sudanese patients. We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene. The results showed that 65% grew up as females and 35% as males. There was a high percentage of consanguineous parents (85%). Female genital mutilation (FGM) was performed in 75% of females. Patients who presented after pubertal age were 63%, with ambiguous genitalia in 61.7%, followed by primary amenorrhea (PA) in 30%. The SRY gene was positive in 3.3% of patients with 46,XX karyotype and negative in 6.7% of patients with 46,XY karyotype. 5αR2D-DSD was seen in 43.3%, gonadal dysgenesis in 21.7%, Ovotesticular syndrome in 6.7%, Swyer and Turner syndrome in 5% each, and Androgen Insensitivity Syndrome (AIS) in 3.3%. In conclusion, DSD in Sudan has a distinct profile with late presentation, dominated by 5αR2D-DSD due to the increased consanguineous marriage, and FGM represents a significant risk for DSD patients.

Compte tenu du peu de données sur le DSD au Soudan, nous avons cherché à caractériser le profil clinique et génétique du DSD chez les patients soudanais. Nous avons étudié 60 patients atteints de DSD en utilisant des données cliniques, cytogénétiques et PCR pour le gène SRY. Les résultats ont montré que 65 % ont grandi en tant que femmes et 35 % en tant qu'hommes. Il y avait un pourcentage élevé de parents consanguins (85 %). Des mutilations génitales féminines (MGF) ont été pratiquées chez 75 % des femmes. Les patientes qui se sont présentées après l'âge pubertaire étaient 63 %, avec des organes génitaux ambigus dans 61,7 %, suivis d'une aménorrhée primaire (AP) dans 30 %. Le gène SRY était positif chez 3,3 % des patients de caryotype 46,XX et négatif chez 6,7 % des patients de caryotype 46,XY. Le 5αR2D-DSD a été observé dans 43,3 %, la dysgénésie gonadique dans 21,7 %, le syndrome ovotesticulaire dans 6,7 %, le syndrome de Swyer et Turner dans 5 % chacun et le syndrome d'insensibilité aux androgènes (AIS) dans 3,3 %. En conclusion, le DSD au Soudan présente un profil distinct avec une présentation tardive, dominé par le 5αR2D-DSD en raison de l'augmentation des mariages consanguins, et les MGF représentent un risque important pour les patients DSD.

Expression pattern of genes encoding nitrate and ammonium assimilating enzymes in Arabidopsis thaliana exposed to short term NaCl stress.

Key steps in nitrate nutrition and assimilation were assessed over two weeks in control and 100mM NaCl-exposed Arabidopsis thaliana (Columbia) plants. The data showed that NaCl stress lowered nitrate contents in both leaves and roots. While NaCl stress decreased ammonium contents in leaves, it increased the contents in roots at the end of treatment. A survey of transcript levels of NIA1 (At1g77760) and NIA2 (At1g37130) and nitrate reductase (NR, EC 1.6.1.6) activity in the leaves and roots suggested a major role of NIA2 rather than NIA1 in the regulation of NR by salt stress. A drop in mRNA levels for GLN2 (At5g35630) and GLN1;2 (At1g66200) by salt was associated with a similar inhibition of glutamine synthetase (GS, EC 6.3.1.2) activity in the leaves. In the roots, NaCl stress was found to enhance mRNA levels of GLN2 and cytosolic-encoding genes (GLN1;1 (At5g37600) and GLN1;2).

An Arabidopsis mutant disrupted in ASN2 encoding asparagine synthetase 2 exhibits low salt stress tolerance.

Salt tolerance of Arabidopsis knockout mutant with T-DNA insertion in ASN2 gene encoding asparagine synthetase (AS, EC 6.3.5.4) (asn2-1) was investigated. Wild-type Arabidopsis Col0 and asn2-1 mutant were grown for one month by hydroponic culture and subjected to 100 mM NaCl stress for a short time from 6 to 24 h. The salt treatment decreased chlorophyll and soluble protein contents, and increased ammonium level in the asn2-1 leaves. The salinity induced ASN1 mRNA level in the wild-type and asn2-1 leaves. By contrast, the salt treatment inhibited the transcript and protein levels of chloroplastic glutamine synthetase 2 (GS2, EC 6.3.1.2) in the wild-type and asn2-1 leaves. Increase in asparagine and proline contents in response to the salt treatment provides evidence for the role of asparagine as a prevailing stress responding amino acid. Glutamate dehydrogenase (NADH-GDH, EC 1.4.1.2) exhibited a slight increase in the α-subunit and ß-subunit in the wild-type line and the asn2-1 line, respectively under the salinity, whereas its in vitro aminating activity in the wild-type leaves was not affected. The results indicate that the asn2-1 mutant was impaired in nitrogen assimilation and translocation under salt treatment.

Tissue-specific cadmium accumulation and its effects on nitrogen metabolism in tobacco (Nicotiana tabaccum, Bureley v. Fb9).

Tobacco (Nicotiana Tabaccum, Bureley v. Fb9) seedlings were grown for 30 days on control medium, and then treated for seven days with different concentrations (0, 10, 20, 50 and 100 muM) of CdCl(2). Cadmium (Cd) was mostly accumulated in the leaves. However, nitrate reductase and nitrite reductase activities (NR, EC 1.6.1.6 and NiR, EC 1.7.7.1) were more inhibited by Cd stress in the roots than in leaves. Glutamine synthetase activity (GS, EC 6.3.1.2) was inhibited by Cd treatment in roots and leaves. In both organs, aminating activity of glutamate dehydrogenase (GDH, EC 1.4.1.2) and protease activity were significantly stimulated in the leaves and roots of stressed plants. The lesser extents of Cd stress effects on leaves, despite their high Cd accumulation, suggest that: (i) tobacco leaves may evolve adaptive process to partially inactivate Cd ions; and (ii) tobacco is useful for phytoremediation.