[A single deletion of mitochondrial DNA in a Brazilian patient with chronic progressive external ophthalmoplegia].

Introduction: The syndrome of chronic progressive external ophthalmoplegia (CPEO) has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle.

Case Report: We report a sporadic case of chronic progressive external ophthalmoplegia that began at age 19 years and was associated with ragged red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4237 bp that encompasses the nucleotide positions 9486 to 13722, a location that has not been described before, and flanked by a direct repeat sequence.

Mitochondria from ejaculated human spermatozoa do not synthesize proteins.

Sperm motility is dependent on mitochondrial ATP production that relies on the coordinated expression of the mitochondrial and nuclear genomes. It is generally accepted that mammalian ejaculated spermatozoa retain the ability to synthesize mtDNA-encoded proteins but not most of the nuclear ones. This implies an asynchronous regulation of the oxidative phosphorylation-related genes encoded by each genome.

Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.

We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have identified a mutation (T14487C) in the mitochondrial ND6 gene. The mutation is heteroplasmic in all samples analyzed, and it fulfills all accepted criteria of pathogenicity. Transmitochondrial cell lines harboring 100% mutant mitochondrial DNA showed a marked decrease in the activity of complex I of the respiratory chain supporting the pathogenic role of T14487C.

[Some features of the relationship between Lullism and pseudo-Lullism in the early modern times].

In this work, the author presents, following a chronologic sequence, some aspects of Llull's image that became controversial during the 16th century, especially the discussion about the idea of Llull as alchemist, which developed around the 16th century. To this end, the author analyses the origin and development of the polemic since the 14th century, including the "official" positions. At the same time, the two positions (Llull the achemist and Llull the philosopher) are related to similar occurrences outside the Iberian Peninsular, especially in France and Italy.

Mitochondrial DNA content of human spermatozoa.

Sperm mitochondria play an important role in spermatozoa because of the high ATP demand of these cells. Different mitochondrial DNA (mtDNA) mutations and haplogroups influence sperm function. The mtDNA dose also contributes to genetic variability and pathology in different tissues and organs, but nothing is known about its relevance in the performance of spermatozoa.

[Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G)].

Introduction: Several degenerative neurological diseases are caused by mutations in the mitochondrial gene coding for subunit 6 of the ATPase. Thus, NARP (neurogenic weakness, ataxia, and retinitis pigmentosa) and Leigh syndromes are associated to a T8993G mutation when the percentage of mutant mitochondrial DNA is low (60 90%) or high (>90%), respectively. Leigh syndrome is also caused by a second mutation in the same position T8993C.

Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells.

This article describes a quick basic method adapted for the purification of mammalian mitochondria from different sources. The organelles obtained using this protocol are suitable for the investigation of biogenetic activities such as enzyme activity, mtDNA, mtRNA, mitochondrial protein synthesis, and mitochondrial tRNA aminoacylation. In addition, these mitochondria are capable of efficient protein import and the investigation of mtDNA/protein interactions by DNA footprinting is also possible.

Association between seminal plasma carnitine and sperm mitochondrial enzymatic activities.

Cellular parameters of the seminogram have been previously shown to correlate with L-carnitine concentration in the seminal fluid. Carnitine is involved in a variety of metabolic processes playing an important role in maintaining an active oxidative phosphorylation (OXPHOS). Recently, we have found a significant association between the specific activities of the respiratory chain complexes and the seminogram parameters and here we have studied the relationship between the spermatozoa OXPHOS activities and L-carnitine concentration in the seminal plasma.

[Communication, diagnosis and treatment of urinary incontinence in the elderly in a basic health area].

Objective: To investigate the frequency in which aged people who suffers on urinary incontinence (UI) talk about this problem with primary care professionals, variables related to no healthcare-seeking as well as diagnostic and therapeutic habits of these professionals.

Design: Cross-sectional study.Location.

[Genetic diseases of the mitochondrial DNA in humans].

Mitochondrial diseases are a group of disorders produced by defects in the oxidative phosphorylation system (Oxphos system), the final pathway of the mitochondrial energetic metabolism, resulting in a deficiency of the biosynthesis of ATP. Part of the polypeptide subunits involved in the Oxphos system are codified by the mitochondrial DNA. In the last years, mutations in this genetic system have been described and associated to well defined clinical syndromes.

[Expectancy in urinary incontinence treatment from the perspective of an elderly population].

Aims: To determine the attitudes of community-dwelling elderly patients about the possibilities for cure of urinary incontinence.

Design: Cross-sectional study.

Interventions: A specific questionnaire on urinary incontinence and the Barthel Index Modified by Shah.

[Diseases of mitochondrial DNA].

Introduction: Human diseases caused by disorders of the mitochondrial metabolism have been described more than 30 years ago. Some of these are associated to defects in the oxidative phosphorylation system (OXPHOS system), the final pathway of the mitochondrial energetic metabolism, that leads to the synthesis of ATP.

Development: Part of the polypeptide subunits involved in the OXPHOS system are codified by the mitochondrial DNA (mtDNA).

Seminal quality correlates with mitochondrial functionality.

Oligozoospermia is an important manifestation of male subfertility and very little attention has been paid to study a possible relationship between the total number of ejaculated spermatozoa and mitochondrial functionality. In this work we report a direct correlation between spectrophotometrically measured mitochondrial enzyme activities (citrate synthase and respiratory complex I, II, I+III, II+III and IV) and seminogram parameters (sperm motility, vitality and cell concentration). In addition, total ejaculated spermatozoa correlate much better with the nuclear-encoded citrate synthase and complex II than with the mitochondrial-encoded complex I, III and IV activities.

Human mtDNA haplogroups associated with high or reduced spermatozoa motility.

A variety of mtDNA mutations responsible for human diseases have been associated with molecular defects in the OXPHOS system. It has been proposed that mtDNA genetic alterations can also be responsible for sperm dysfunction. In addition, it was suggested that if sperm dysfunction is the main phenotypic consequence, these mutations could be fixed as stable mtDNA variants, because mtDNA is maternally inherited.

Direct and highly species-specific detection of pork meat and fat in meat products by PCR amplification of mitochondrial DNA.

Highly species-specific primers for pork D-loop mtDNA have been designed. Use of these and restrictive PCR amplification conditions has improved a reliable and rapid method for detecting a PCR-amplified 531 bp band from pork. It has been proved useful for detecting both pork meat and fat in meat mixtures, including those dry-cured and heated by cooking.

[Use of devices for urinary incontinence among the elderly of the basic health area of Cabra (Córdoba)].

Aims: To study the proportion and characteristics of elderly people who use aids for urinary incontinence, and the economic cost of pads.

Design: Cross-sectional study.

Interventions: A specific questionnaire on urinary incontinence and Barthel and Lawton indexes; and economic analysis of the number of pads used.

Association of individual activities of daily living with self-rated health in older people.

Objective: to evaluate the associations of 18 activities of daily living with self-rated health in older people.

Design And Setting: cross-sectional study of a representative sample of 781 people aged 65 or over (response rate: 89.9%).

Prevalence and psychosocial impact of urinary incontinence in older people of a Spanish rural population.

Background: The prevalence and the psychosocial impact of urinary incontinence in older people of a rural population were investigated.

Methods: A cross-sectional study was made by means of a home health interview in a representative sample of people aged 65 years and older in the Basic Health Zone of Cabra (Córdoba). A questionnaire was used with two questions to detect urinary incontinence and further questions regarding its duration, frequency, volume, severity and psychosocial impact.

Respiratory chain enzyme activities in spermatozoa from untreated Parkinson's disease patients.

We studied respiratory chain enzyme activities in spermatozoa homogenates from 12 untreated Parkinson's disease (PD) male patients and from 23 age matched healthy male controls. When compared with controls, PD patients showed significantly lower specific activities for complexes I+ III, II+III, and IV. However, citrate synthase corrected activities were similar in patients and controls.

Direct regulation of mitochondrial RNA synthesis by thyroid hormone.

We have analyzed the influence of in vivo treatment and in vitro addition of thyroid hormone on in organello mitochondrial DNA (mtDNA) transcription and, in parallel, on the in organello footprinting patterns at the mtDNA regions involved in the regulation of transcription. We found that thyroid hormone modulates mitochondrial RNA levels and the mRNA/rRNA ratio by influencing the transcriptional rate. In addition, we found conspicuous differences between the mtDNA dimethyl sulfate footprinting patterns of mitochondria derived from euthyroid and hypothyroid rats at the transcription initiation sites but not at the mitochondrial transcription termination factor (mTERF) binding region.

Reduced mitochondrial DNA transcription in senescent rat heart.

We studied the effect of senescence on mitochondrial DNA (mtDNA) transcription with an in organello system using intact isolated rat heart mitochondria. A comparison of the electrophoretic patterns of mtDNA transcription products in young, adult and senescent rats showed an age-related reduction in newly-synthesized mitochondrial RNAs that reflects a decrease in the synthesis rate. These results correlate with the enzyme activities of the oxidative phosphorylation complexes I and IV, that are partially encoded by the mitochondrial genome.

[Human mitochondrial genetic system].

The mitochondria are subcellular organelles devoted to energy production in form of ATP that contain their own genetic system. Mitochondrial DNA codify a small, but extremely important, number of polypeptides of the respiratory chain. The other mitochondrial proteins are encoded in the nucleus.