OBJECTIVE To determine the neuroradiological abnormalities associated with subjects carrying the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) tRNA(Leu)(UUR) A3243G point mutation METHODS Mitochondrial genetic analysis was performed on 24 subjects from six kindreds with the MELAS tRNA(Leu)(UUR) A3243G point mutation. Cerebral CT and MRI were performe...

Abstract Introduction: Maternally inherited diabetes and deafness (MIDD) is a multisystem disorder characterized by insulinopenia sensorineural hearing loss. This rare form of monogenic most commonly associated with the A3243G mutation mitochondrial DNA (mtDNA). The same seen in 80 percent patients MELAS (Mitochondrial encephalomyopathy lactic acidosis stroke-like episodes). MIDD have overlappi...

A few mtDNA mutations strongly associated with diabetes is called as Mitochondrial Diabetes Mellitus (MDM), with the causal mutation being the A3243G mutation in the mitochondrial DNA-encoded tRNA(Leu,UUR) gene. It is unfortunate that A3243G mutation was not found in Indonesia after more than a thousand of mtDNA samples being examined in Jakarta, Jogyakarta and Surabaya. In Indonesia G3316A and...

Abstract Background and Aims Mitochondrial Diseases represent a heterogeneous set of maternally inherited diseases that arise by mutations either the mitochondrial DNA (mtDNA) or in genes nuclear (nDNA) linked to cell cross-talk. Many mtDNA code for different are wide spectrum kidney manifestations ranging from focal segmental glomerulosclerosis (FSGS), tubule-interstitial disease (TIN), nephro...

In clinical diagnostics a great need exists for targeted in situ multiplex nucleic acid analysis as the mutational status can offer guidance for effective treatment. One well-established method uses padlock probes for mutation detection and multiplex expression analysis directly in cells and tissues. Here, we use oligonucleotide gap-fill ligation to further increase specificity and to capture m...