A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene.
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Amino Acid Substitution↗
Biomedical subjects
J Bautista
Publications and source records attributed to J Bautista.
Purification and partial characterization of chickpea 2S albumin.
A chickpea 2S albumin has been purified by solubilization in 60% methanol and ion-exchange chromatography. Under denaturing conditions it is composed of two peptides of 10 and 12 kDa. Native molecular mass determined by gel filtration chromatography is 20 kDa. Amino acid composition shows that it is rich in sulfur amino acids, mainly cysteine with 4.6% of the total. On the other hand, it has antinutritional characteristics of being allergenic for chickpea-sensitive individuals and inhibitory against porcine chymotrypsin with a lesser degree toward trypsin. The results of interest from a nutritional point of view are discussed.
2S Albumins, Plant↗
Interaction of chickpea (Cicer arietinum L.) legumin with oxidized linoleic acid.
Chickpea legumin has been purified and incubated under oxidizing conditions with linoleic acid to investigate the influence of this acid on the structure and nutritional quality of the protein. At the end of the incubation time, >30% of the linoleic acid was oxidized. The oxidized linoleic acid was highly detrimental to legumin, and the electrophoretic pattern of the protein was completely changed after the incubation period. Nevertheless, neither polymerization nor cleavage of the protein was observed as deduced from gel filtration chromatography, suggesting that the changes observed in native electrophoresis were probably due to oxidation of legumin. The incubation of legumin with linoleic acid also produced a diminution of the contents of methionine and histidine, by 81.3 and 24.3%, respectively. Finally, in vitro protein digestibility of chickpea legumin was also seriously affected by the incubation with linoleic acid, decreasing from 84.1 to 69.2%.
Amino Acids↗
Three major G6PD-deficient polymorphic variants identified among the Mauritian population.
We report the results of the first epidemiological study investigating glucose 6-phosphate dehydrogenase (G6PD) deficiency among the heterogenous Mauritian population. Mauritius has a population of approximately 1 million, and of these 66.8% are Indo-Mauritian (of Indian origin), 27.9% are Creoles (of African ancestry) and 2.1% are Sino-Mauritian, predominantly of Chinese origin. Of the 1435 Mauritian males tested, 73 (5.1%) were G6PD deficient. However, the prevalence varied considerably between the two major ethnic groups: 35/1157 (3.0%) for Indo-Mauritians and 37/267 (13.9%) for Creoles. Molecular analysis revealed three major deficient polymorphic variants; G6PD Orissa, G6PD Mediterranean and G6PD A-. G6PD Orissa (nt 131 G-->C; residue 44 Ala-->Gly) was found to be the most common variant among Indo-Mauritians: this deficient variant was recently identified to be highly characteristic of the tribal groups in central India. In Creoles the most common deficient variant was G6PD A- (27/37). These data are consistent with the different ancestral contributions to the present gene pool of the Mauritian population. This study has provided further information as to the precise nature of G6PD deficiency at the molecular level among Indians, about whom previously there was scant information. The data presented suggest that G6PD Orissa is widespread in central and southern states of India. Additionally, the identification and frequency of G6PD-deficient alleles in Mauritius is of public-health importance.
Electrophoresis↗
Time perspective and sleep problems.
In this study of 137 university students, we examined the relationships among the five dimensions of the Zimbardo Time Perspective Inventory and three scales that measure aspects of sleep problems. All of the Zimbardo Inventory dimensions correlated significantly with each of the sleep problem-related scales. These data suggest that concern about time, regardless of the specific nature of individuals' time perspective, and certain sleep problems are significantly related.
Arousal↗
Ethnicity, sleep duration, and sleep satisfaction.
Analysis of responses of 1100 students from four ethnic groups to questions about the quantity and quality of their sleep indicated that ethnicity was modestly but significantly related.
Black or African American↗
Ethnicity and bruxism.
Distributions of students of four ethnic groups were statistically significantly different. 106 African-American students reported the lowest incidence of self-reported bruxism (9.4%), 452 Asian students the highest incidence (24.6%); 312 Euro-American and 225 Hispanic students' incidence was intermediate.
Black or African American↗
Ethnicity, Sleep Hygiene Knowledge, and Sleep Hygiene Practices.
We tested the mean differences in scores on Sleep Hygiene Knowledge and on Sleep Hygiene Practices among four ethnic groups of university students (N = 963). We computed significant main effects for ethnicity for both of these variables. Primarily the results reflect that the Euro-American students scored significantly higher on both scales than each of the other three groups.
Ethnicity↗
Boundaries and handedness.
The responses of 116 university students were used to assess a possible relation between scores on Hartmann's Boundary Questionnaire and the Briggs-Nebes Handedness Scale. Consistent with our prediction, the mean handedness score of the students with thin boundaries was significantly skewed in the direction of mixed-handedness.
Functional Laterality↗
Boundaries and level of experience with six types of dreams.
The self-reported levels of experience to six types of dreams were compared for groups of students who classified as having either thin (n = 30) or thick (n = 86) boundaries. Consistent with predictions drawn from the literature, the thin-boundary group scored significantly higher on level of experience for each dream type than the thick-boundary group. These data provide additional validation for Hartmann's Boundary Questionnaire.
Dreams↗
[Localized continuous muscular activity secondary to radioculopathy S1 with shin hypertrophy and focal myositis].
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Biopsy↗
[The bent spine syndrome: a focal axial myopathy of late onset].
The bent spine is a rare syndrome appearing at an advanced age which shows a posture of anterior flexion of the trunk, which is reducible and is often hereditary. It is caused by a paresia of the extensor musculature of the trunk by a focal axial myopathy of late onset. We herein describe the case of a 72-year-old woman with a progressive bent spine initiated at the age of 55. Family questioning showed vertical transmission of the process. On exploration paresis of the paravertebral musculature and to a lesser extent of both girdles was observed. Serum CK levels were normal. Vertebral CT showed atrophy with fatty substitution of the paravertebral musculature. EMG of the scapular and paravertebral muscles demonstrated a myopathic pattern. Deltoid muscle biopsy found atrophy of type II fibers and isolated broken red fibers. This case corroborates the myopathic nature of this syndrome. A review of the nosology of the syndrome is also presented.
Age Factors↗
[Mitochondrial encephalomyopathy of late presentation with progressive ophthalmoplegia, tremor and diffuse leukoencephalopathy].
A 60-year-old woman had developed ptosis, progressive external ophthalmoplegia and action tremor over the last ten years. Physical examination also revealed short stature and retinal pigmentation. Anaerobic forearm exercise test showed increase of basal lactate and rise of lactate/piruvate index. Biceps biopsy displayed numerous ragged red fibers. Respiratory chain studies were consistent with complex I deficiency. Point mutations or deletions in mitochondrial DNA were not found. MR identified a diffuse leukoencephalopathy over both cerebral hemispheres, mesencephalon, pons and cerebellum. The late and sporadic onset of a progressive external ophthalmoplegia outlining a Kearns-Sayre syndrome is striking. A leukoencephalopathy associated with mitochondrial encephalomyopathy is an infrequent finding. The action tremor of this patient could be symptomatic of her mitochondrial disfunction.
Biopsy↗
Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain.
We studied a 21-year-old patient with clinical, biochemical and histochemical evidence of myophosphorylase deficiency and unusual repetitive episodes of pigmenturia. His muscle biopsy also revealed morphological signs of mitochondrial proliferation and a defect of complex I of the respiratory chain. His mother had exercise intolerance without myoglobinuria and no histochemical evidence of myophosphorylase deficiency. In muscle, the mother showed some ragged-red fibers, normal respiratory chain levels and a significant residual phosphorylase activity. Molecular genetic analysis revealed that the proband was homozygous for the mutation commonly found in McArdle's disease. The mother, father, and the five siblings were all heterozygous for the same mutation. Mitochondrial DNA analysis of the proband's muscle failed to demonstrate known mutations associated with his clinical pattern. Moreover, we sequenced his tRNA(Leu(UUR)) gene, a hot spot for mutations, showing no abnormality.
Adult↗
An outbreak of equine leukoencephalomalacia at Oaxaca, Mexico, associated with fumonisin B1.
Equine leukoencephalomalacia (ELEM), swine pulmonary oedema and human oesophageal cancer have been associated with fumonisine B1 (FB1) ingestion. For the first time in this study it is reported that FB1 was identified as being associated with an outbreak of ELEM at Oaxaca, Mexico. Symptoms of ELEM and Equine Venezuelan Encephalitis (EVE) are similar and a different diagnosis is obligatory. In the geographical area (Oaxaca, Mexico) where donkeys died showing a neurological syndrome, 14 corn samples were collected. With the use of TLC (Thin layer chromatography) and HPLC (High performance liquid chromatography) all collected samples resulted positive to FB1. In the area of study, this syndrome was reported to be the cause of death of 100 donkeys, after 3 postmortem examinations in which macroscopic and microscopic cerebral white manner liquefactive necrosis were observed, when FB1 concentration was determined in the samples collected, using HPLC and TLC. It was concluded that HPLC is a highly sensitive method for the detection of FB1 through the formation of an OPA derivative. However, the reverse phase TLC plate and the visualisation of the coloured reaction with the vanillin acidic solution is more objective. FB1 concentration in the studied samples ranged from 0.67 to 13.3 ppm. It was concluded that FB1 was the cause of leukoencephalomalacia reported in donkeys in the state of Oaxaca, Mexico.
Animal Feed↗
Immunological detection and quantification of oxidized proteins by labelling with digoxigenin.
An immunological assay, based on the digoxigenin/anti-digoxigenin system, was developed to detect and quantify carbonyl moieties that result from oxidative damage to proteins. Bovine serum albumin (BSA) was oxidized by a hydroxyl radical-generating system consisting of ascorbate/Fe(III)/O2. The resulting albumin-derived carbonyls were labelled with digoxigenin-hydrazide and detected by dot blotting with an anti-digoxigenin antibody conjugated to alkaline phosphatase. Quantification was carried out by a densitometric analysis. This system allows the detection of a pmole-amount of carbonyl groups on blots. The assay covers a range of sensitivity from 1.26 to 126 pmoles. Another feature of this method is its application to a complex protein mixture (homogenate) to analyze the oxidative status of individual proteins, as are shown for intestinal brush border membrane homogenate of a rat.
Animals↗
Consistency of hand use and accidents with injury.
In this study, we examined the relationship between the consistency of hand use and the self-reported incidence of accidents with injuries which required medical care in groups of university students (n = 23 for each group). To do this, we adopted a scoring procedure for the Briggs-Nebes Handedness Scale that permitted us to classify individuals as consistent or inconsistent in the use of their hands. We observed that the inconsistent group was 6.12 times more likely to have experienced accidents with injury that required medical care than the consistent group. These data have implications for the literature on handedness classification and accidents. Collectively, these limited data underscore the need to pay attention to the consistency of hand use in research on handedness, health, and longevity.
Accidents↗
[Treatment of mitochondrial diseases].
Until gene therapy is perfected, developed should reaching for a curative treatment of mitochondrial diseases in a next future, the present management of these metabolic disorders is directed to obtain the optimum energetic efficiency of dysfunctional mitochondria. Among other general measures the patient must avoid fever, exhausting exercise and drugs that inhibit mitochondrial metabolism. Dietetic restrictions are more useful in lipidic disorders, such as fatty acid oxidation or carnitine cycle defects, in which diets free of long chain and very long chain fatty acids are recommended. Pharmacological therapy should always be attempted, since some patients may experience a beneficial response. In respiratory chain deficits, coenzyme Q is the most widely used drug, although in the only double blind placebo-controlled study performed, results were contradictory. In isolated cases, vitamins K3, B2, C and E have been useful. Exogenous carnitine treatment may improve symptoms (sometimes dramatically) in patients with primary or secondary carnitine deficit. Dichloroacetate administration has a mild benefit in some cases of Leigh disease due to pyruvate dehydrogenase deficiency. Finally, sustained aerobic exercise may ameliorate symptoms of exercise intolerance due to mitochondrial dysfunction.
Humans↗