Treatment options are limited, but include the use of antioxidant supplements. Gene therapy trials are currently underway. Individuals eventually diagnosed with LHON may initially be asymptomatic, or experience mild blurring of the central visual field of one eye. Males are more likely to be affected than females, with some reported ratios as high as Age of onset is typically between years, though onset in the seventh or eighth decade has been reported. Visual field testing typically shows a worsening central or cecocentral scotoma. Examination may initially reveal normal or pseudo-edematous optic nerves, with optic nerve pallor and atrophy appearing subsequently. Individuals may harbor concurrent disease including cardiac conduction abnormalities, dystonia, and multiple sclerosis-like illness.

Leber Hereditary Optic Neuropathy

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We’ve recapped the first series of Bancroft ahead of the New Year’s Day premiere of series 2. By Eleanor Bley Griffiths. Two years have passed since Bancroft first hit our screens, with Sarah Parish starring as a ruthless and psychopathic police boss with a big secret. Katherine had been given a cold case to solve, and she was determined to find out who really killed Laura Fraser Lily Sacofsky back in

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Genetic studies, though limited, have demonstrated both the uniqueness and antiquity of Aboriginal Australian genomes. We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of contemporary Aboriginal Australians. We propose some major phylogenetic rearrangements, such as in haplogroup P where we delinked P4a and P4b and redefined them as P4 New Guinean and P11 Australian , respectively. Haplogroup P2b was identified as a novel clade potentially restricted to Torres Strait Islanders.

Nearly all Aboriginal Australian mitochondrial haplogroups detected appear to be ancient, with no evidence of later introgression during the Holocene. The human colonisation of Australia occurred relatively soon after the migration of anatomically modern humans out of Northeast Africa some 60 to 80 thousand years ago KYA 1 , 2 , 3. This initial settlement of Australia occurred between 47—55 KYA, based on the dating of archaeological sites dispersed throughout the continent 3 , 4 , 5 , 6 , 7 , and the analysis of contemporary Aboriginal Australian DNA 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , Although there is consensus about the time the ancestors of Aboriginal people arrived in the ancient landmass of Sahul which comprised Australia and New Guinea , there is debate over the route s taken by them to reach Sahul 9 , 10 , 11 , 18 , 19 ,

Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in India

New research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place , years ago and is the cause of the eye colour of all blue-eyed humans alive on the planet today. The “switch,” which is located in the gene adjacent to OCA2 does not, however, turn off the gene entirely, but rather limits its action to reducing the production of melanin in the iris — effectively “diluting” brown eyes to blue.

The switch’s effect on OCA2 is very specific therefore. If the OCA2 gene had been completely destroyed or turned off, human beings would be without melanin in their hair, eyes or skin colour — a condition known as albinism.

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Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in India

Duncan is the definition of a bad boy, being a crafty, cool juvenile delinquent who comes from a long line of policemen and policewomen: his dad, mom, uncle, aunt, grandma and cousins are all cops. He knows many tactics from his time spent in juvenile detention centers. He can carve a picture of a skull into a tree trunk and lift great amounts of weight such as Owen , who is more than three times his size.

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Situated at over 5, meters above sea level in the Himalayan Mountains, Roopkund Lake is home to the scattered skeletal remains of several hundred individuals of unknown origin. We report genome-wide ancient DNA for 38 skeletons from Roopkund Lake, and find that they cluster into three distinct groups. A group of 23 individuals have ancestry that falls within the range of variation of present-day South Asians. A further 14 have ancestry typical of the eastern Mediterranean.

We also identify one individual with Southeast Asian-related ancestry.

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