Mitochondrial mutation in Egyptian patients with type 2 diabetes mellitus

Mitochondrial gene mutation plays a role in the development of diabetes mellitus. An A to G substitution at base pair 3243 in the mitochondrial tRNAleu[UUR] gene [mt3243] is commonly associated with maternally inherited diabetes and deafness and other diseases. The aim of this study is to detect A to G substitution at base pair 3243 in mitochondrial RNAleu[UUR] in the plasma of patients with type 2 diabetes mellitus, and to evaluate insulin sensitivity in all cases. This study, included 41 patients [Group I, 31 cases with type 2 diabetes mellitus and maternal history of diabetes mellitus-and Group II, 10 cases with type 2 diabetes mellitus, bilateral SNHL, maternal history of diabetes mellitus with or without SNHL. Other10 healthy control group was included. Patients and controls were subjected to full medical history and clinical examination. Serum measurements for liver and kidney function tests, fasting and postprandial blood glucose as well as C-peptide levels, in addition to lipid profile were collected. Audiological evaluation for all patients with SNHL was also done. Genetic investigation, for mDNA analysis, done by polymerase chain reaction restriction fragment length polymorphism [PCR-RFLP], to determine the mutation in the mitochondrial gene at position 3243. Results of the study showed that glycemic indices [FPG, 2hPPG and HbA1c], liver enzymes and blood urea were significantly higher among patient group compared to control group [P<0.05]. There was no significant difference for values of creatinine and uric acid between cases and controls. Lipid profile was significantly higher among patient group compared to controls [P<0.05], except for HDL-C which was higher in controls however, it did not reach statistical significance. C-peptide values were not significantly different between studied groups. Age at onset of diabetes was relatively earlier in group II than group I. mDNA was present in all plasma samples of patients and controls. mDNA 3243 mutation was detected in the plasma of three patients with diabetes and SNHL with a rate of 7.3% of all diabetic patients and 30% of diabetic patients associated with deafness. The presence of mDNA mutation allowed 294 bp product to be cleaved into 180 and 114 bp fragments and were seen as two bands. The A 3243 G mutation is present in Egyptian population and is considered as a cause of maternally inherited diabetes and deafness at a rate of 7.3% of all diabetic subjects and a rate of 30% of diabetics associated with deafness. mDNA mutation is present and detectable in plasma. Maternally inherited diabetes and deafness differs pathophysiologically from the more common forms of type 2 diabetes in that, insulin resistance does not seem to be a major factor

Serum and follicular insulin growth factor [I G F -I] and insulin growth factor binding protein - I [I G F B P -I] In polycstic ovary syndrome

The present study comprised a total of 75 young women [45 polycystic ovary syndrome [PCOS] patients and 30 age and weight matched controls]. On the basis of their body mass index [BMI], the patients and controls were further subdivided into obese [BMI 27 kg/m2] and lean [BMI 25 kg/m2] groups. All participants in the study were subjected to medical as well as reproductive history. A clinical and gynecological examination including pelvic ultrasonography was done. BMI and WHR were also calculated. Hirsutism was examined and graded. Fasting plasma glucose, serum LH, FSH, testosterone, SHBG, insulin, IGF-1 and IGFBP-1 were measured. Fasting glucose/insulin ratio as an indicator of insulin resistance and free androgen index [FAI] as index of hyperandrogenemia were calculated. Moreover, follicular fluid samples were collected from 15 PCOS and 5 control subjects for the assessment of their IGF-1 and IGFBP-1 levels

Clinical, electroencephalographic and psychometric studies in treated and untreated hyperthyroidism

The study comprised 10 untreated cases of hyperthyroidism, 7 successfully treated cases and 13 healthy controls matched for age, sex and socioeconomic status. Estimation of serum thyroxine [T 4], triiodothyronine [T 3], T3 resin uptake and free thyroxine index [FTI] was calculated for both untreated and treated patients. Electroencephalographic recording [E.E.G] and psychometric studies were done to all subjects.All untreated cases had elevated levels of T 4, T3, T3 resin uptake and FTI while all these parameters were normal in treated subjects more than once. Sixty percent and 42.9% of untreated and treated cases of hyperthyroidism respectively had abnormal E.E.G. records compared to 15.4% in controls. These differences, however did not reach statistical significance [P > .05]. The abnormalities in E.E.G. were mainly in paroxysmal and fast activities. Dominant frequency was higher in untreated group compared to both treated and control groups [P < 0.001 and P < 0.01 respectively]. A positive correlation was found between severity of hyperthyroidism as assessed by FTI and the total degree of abnormality in E.E.G. [r=0.72], but not with the dominant frequency. No correlation was found between degree of E.E.G abnormality and age of patients or duration of their symptoms. Untreated and treated cases displayed significant deficits in their memory as compared to controls [P < 0,001 and P < 0.001] but no significant difference was found in comparison to each other [P > .05].In conclusion, hyperthyroidism might cause marked E.E G and psychometric abnormalities in the acute state of the disease, changes which are not completely reversible with successful management. These patients should be adequately evaluated to avoid deleterious psychosocial complications

Alpha 1-antitrypsin and sex chromosome abnormalities

Serum levels of Alpha-I-antitrypsin were determined in 63 individuals: 14 cases of Turner syndrome, 16 cases with Klinefelter syndrome [all our cases had normal mentality], 10 normal age-matched females and 10 normal age-matched males. A group of parents of the cases was studied [10 mothers and 3 fathers]. A statistically high significant decrease of alpha-I -antitrypsin was detected in cases with sex chromosome abnormalities as compared to the control group [P < 0.001]. No significant difference was detected in our study in serum level of alpha-I-antitrypsin in parents as compared to control group [P > 0.05]. No significant difference was found between serum level of alpha-I- antitrypsin in both Turner and Klinefelter syndrome cases. We conclude that alpha-I-antitrypsin may have a role in the development of sex chromosomal abnormalities. Experimental approach on the molecular and cytogenetic level may be needed to prove the underlying mechanism during cell division