leber hereditary optic neuropathy (lhon) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. it is caused by three primary point mutations including g11778a, g3460a, and t14484c in the mitochondrial genome. these three mutations account for the majority of lhon cases and affect genes that encode for different subunits of mitochondrial c...

Morphology, mitochondrial DNA (mtDNA) restriction fragment polymorphisms (RFLPs) and nuclear DNA (nDNA) fingerprinting were used to clarify relationships among the morphologically similar Ophiostoma and Leptographium species associated with mycangia of three Dendroctonus bark beetles (Ophiostoma clavigerum associated with both D. ponderosae and D. jeffreyi, and L. pyrinum associated with D. adj...

AIMS Alterations in mitochondrial DNA (mtDNA) have been implicated in carcinogenesis and tumor progression. We here evaluated the diagnostic and prognostic potential of mtDNA as a biomarker for breast cancer. METHODS Using multiplex real-time polymerase chain reaction, nuclear DNA (nDNA) and mtDNA levels in serum, buffy coat, tumor, and tumor-adjacent tissue samples from 50 breast cancer pati...

Abstract Background and Aims Patients with ANCA-associated vasculitis (AAV) undergo immunosuppressive treatment to thwart organ failure avoid relapse. However, the is associated risk of infections malignancy. There are currently no reliable biomarkers which can be used in clinic assess disease activity. Neutrophil extracellular traps containing nuclear (n) and/or mitochondrial (mt) DNA have bee...

MITOCHONDRIAL DNA AND AGEING Osteoarthritis (OA) is the most common form of arthritis affecting more than 12% of people over the age of 60. Although late-onset articular cartilage degeneration is common and age is one of the most important risk factors for the disease, the relationship between old age and OA is not fully understood. In the past it was believed that the link with age was due to ...

BACKGROUND The oxidative phosphorylation system (OXPHOS) includes nuclear chromosome (nDNA)- and mitochondrial DNA (mtDNA)-encoded polypeptides. Many rare OXPHOS disorders, such as striatal necrosis syndromes, are caused by genetic mutations. Despite important advances in sequencing procedures, causative mutations remain undetected in some patients. It is possible that etiologic factors, such a...

Little is known about the life history, ecology, and distribution of genus Allopaa (Dicroglossidae) far less recent data are available larvae this taxon. Here, we provide on larval stage hazarensis (Dubois & Khan, 1979) from northern Pakistan based examination three tadpoles. Specimens were obtained two sites in Buner, Khyber Pakhtunkhwa province, Pakistan. Morphological genetic analysi...

Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...

Mitochondrial diseases are a group of disorders due to a mitochondrial respiratory chain deficiency. They may depend on mitochondrial genome (mtDNA-related disorders) as well as on a nuclear genome defect (nDNA-related disorders). mtDNA-related disorders encompass an increasing number of clinical pictures associated with more than 250 different provisional or confirmed pathogenic changes in mtD...