The D-loop region is a hot spot for mitochondrial DNA (mtDNA) alterations, containing two hypervariable segments, HVS-I and HVS-II. In order to identify polymorphic sites and potential genetic background accounting for Hypertrophic CardioMyopathy (HCM) disease, the complete non-coding region of mtDNA from 31 unrelated HCM patients and 45 normal controls were sequenced. The sequences were aligne...

Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania-Kujawy region; n = 436) and Russians (from three different regions of the European part of Russia; n = 201), for which the two hypervariable segments (HVS I and HVS II) and haplogroup-specific coding region sites were analyzed. The use of mtDNA coding region RFLP analysis made it possible to distinguish paral...

alzheimer’s disease (ad) is the most common form of dementia in the elderly in which interplay between genes and the environment is supposed to be involved. mitochondrial dna (mtdna) has the only non-coding regions at the displacement loop (d-loop) region that contains two hypervariable segments (hvs-i and hvs-ii) with high polymorphism. mtdna has already been fully sequenced and many subsequen...

BACKGROUND A key challenge to dose selection in early central nervous system (CNS) clinical drug development is that patient tolerability profiles often differ from those of healthy volunteers (HVs), yet HVs are the modal population for determining doses to be investigated in phase II trials. Without clear tolerability data from the target patient population, first efficacy trials may include d...

ataxia-telangiectasia (at) is a rare human neurodegenerative autosomal recessive multisystem disease characterized by a wide range of features including progressive cerebellar ataxia during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. mitochondrial dna (mtdna) has the only non-...

Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...

A new human herpesvirus was recently identified in all forms of Kaposi's sarcoma (Kaposi's sarcoma-associated herpesvirus [KSHV] or human herpesvirus 8), as well as in primary effusion (body cavity-based) lymphomas (PELs). A 12.3-kb-long KSHV clone was obtained from a PEL genomic library. Sequencing of this clone revealed extensive homology and colinearity with the right end of the herpesvirus ...

Context. Hyper-velocity stars are suggested to originate from the dynamical interaction of binary stars with the supermassive black hole in the Galactic centre (GC), which accelerates one component of the binary to beyond the Galactic escape velocity. Aims. The evolutionary status and GC origin of the hyper-velocity star SDSS J113312.12+010824.9 (aka HVS 7) is constrained from a detailed study ...

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...