Anopheles melas is a brackish water mosquito found in coastal West Africa where it is a dominant malaria vector locally. In order to facilitate genetic studies of this species, 45 microsatellite loci originally developed for Anopheles gambiae were sequenced in An. melas. Those that were suitable based on repeat number and flanking regions were examined in 2 natural populations from Equatorial G...

We report the clinical, pathological, and genetic findings of a case of MELAS syndrome. This was a man who died for metabolic failure at the age of 27 years. His familiar history was positive for hypoacusia and stroke. He was of short stature and presented mild mental retardation. Since the age of 21 he suffered from recurrent brain-ischemic lesions mainly in the occipital lobes, documented by ...

A 9 years old boy suffered from recurrent headache, nausea and blurred vision for 2 months. His medical history revealed failure to thrive, easy constipation and exercise intolerance for more than two years. Initial computed tomography and magnetic resonance images (MRI) of the brain were unremarkable. He presented with ongoing headache and homonymous hemianopia. The follow-up brain MRI reveale...

BACKGROUND Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS. CASE PRESENTATION A 55-year-old man, who h...

The mitochondrial A3243G mutation is most commonly related to the MELAS syndrome, but can cause many different clinical manifestations at various ages. Here, we present a family with maternally inherited diabetes and deafness (MIDD), the proband of which exhibits hearing loss, diabetes mellitus, cardiomyopathy and short stature. Four easily accessible samples (whole blood, hair roots, buccal sc...

Mutations in human mitochondrial DNA are often associated with incurable human neuromuscular diseases. Among these mutations, an important number have been identified in tRNA genes, including 29 in the gene MT-TL1 coding for the tRNA(Leu(UUR)). The m.3243A>G mutation was described as the major cause of the MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like epis...

OBJECTIVES To define the molecular genetic basis of the MELAS phenotype in five patients without any known mutation of mitochondrial DNA. METHODS Systematic automated mitochondrial DNA sequencing of all mitochondrial transfer RNA and cytochrome c oxidase genes was undertaken in five patients who had the MELAS phenotype. RESULTS A novel heteroplasmic mitochondrial DNA mutation was identified...

In India there is a living tradition of indigenous popular toys. Yet despite it's great worth and value, this area of crafts for children is among the most neglected parts of our cultural heritage. My interest in the development of Indian toys grew from a different angle. I used to teach a course in Material Manipulation for design students at the National Institute of Design (NID). We often lo...