179 research outputs found
Portrait of the English anthropologist Gregory Bateson, New Guinea, 1929 [picture] /
No full textPart of the collection: Sarah Chinnery photographic collection of New Guinea, England and Australia.; Gregory Bateson, famous English anthropologist, New Guinea research in Bainings and Sepik, eventually lived and worked in the United States. Author of "Naven" and other works. -- Accompanying notes from family.; Inscription: "1929" -- On label. "Gregory Bateson, 'Naven' and other works" -- In red ink.; Sarah Chinnery no.: Part 2.; Also available in an electronic version via the internet at: http://nla.gov.au/nla.pic-vn4506462
Portrait of the anthropologist Professor Hortense Powdermaker from Queens, New York, in New Guinea, 1929 [picture] /
No full textPart of the collection: Sarah Chinnery photographic collection of New Guinea, England and Australia.; Inscriptions: "Professor Hortense Powdermaker, (Queens N.Y., U.S.A.) 'Life in Lesso [i.e. Lesu]' and other works" --In red ink. "1929" -- In pencil.; Professor Hortense Powdermaker, American anthropologist 1929 research in Lesu, New Ireland, New Guinea. Author of "Life in Lesu" and other works. -- Accompanying notes from family.; Sarah Chinnery no.: Part 2.; Also available in an electronic version via the internet at: http://nla.gov.au/nla.pic-vn4506463
Portrait of Bill Harney the "Keeper of Uluru", Black Rock, Victoria, ca. 1955, 3 [picture] /
No full textPart of the collection: Sarah Chinnery photographic collection of New Guinea, England and Australia.; Bill Harney, Patrol Officer, Northern Territory. Later was keeper of Uluru, poet, author, at Chinnery's Black Rock home. -- Accompanying notes from family.; Condition: Scratched.; Also available in an electronic version via the internet at: http://nla.gov.au/nla.pic-vn4554174
Mitochondrial optic neuropathies
No full text: Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation in mitochondrial DNA was associated with Leber's hereditary optic neuropathy (LHON). Autosomal dominant optic atrophy (DOA) was subsequently associated in 2000 with mutations in the nuclear DNA affecting the OPA1 gene. LHON and DOA are both characterized by selective neurodegeneration of retinal ganglion cells (RGCs) triggered by mitochondrial dysfunction. This is centered on respiratory complex I impairment in LHON and defective mitochondrial dynamics in OPA1-related DOA, leading to distinct clinical phenotypes. LHON is a subacute, rapid, severe loss of central vision involving both eyes within weeks or months, with age of onset between 15 and 35 years old. DOA is a more slowly progressive optic neuropathy, usually apparent in early childhood. LHON is characterized by marked incomplete penetrance and a clear male predilection. The introduction of next-generation sequencing has greatly expanded the genetic causes for other rare forms of mitochondrial optic neuropathies, including recessive and X-linked, further emphasizing the exquisite sensitivity of RGCs to compromised mitochondrial function. All forms of mitochondrial optic neuropathies, including LHON and DOA, can manifest either as pure optic atrophy or as a more severe multisystemic syndrome. Mitochondrial optic neuropathies are currently at the forefront of a number of therapeutic programs, including gene therapy, with idebenone being the only approved drug for a mitochondrial disorder
Implications of mitochondrial DNA mutations in human induced pluripotent stem cells
No full textIndividual cells in the same induced pluripotent stem cell (iPSC)-derived clones can exhibit large heterogeneity. In this Comment, Carelli et al. discuss emerging evidence implicating variants in mitochondrial DNA, and highlight the need for routine screening of iPSCs.Single-cell analyses in recent years have shown major differences in the transcriptome between individual cells in the same induced pluripotent stem cell-derived clones. Although these differences are in part attributable to genetic and epigenetic modifications of the nuclear genome, emerging evidence suggests that variants in mitochondrial DNA also play a pivotal role
[Letter] Sunday Morning, Weymouth Street [to] Chinnery[?], Manchester Square / Jane Porter.
No full textPorter thanks the recipient for her letter and states that nothing but extreme illness could have kept her from responding "and even now I write from my Bed. I am sufficiently better not to be confined within it, but I am not strong enough to remain off it." She hopes to be able to receive her visitor as her illness is nothing to alarm: a combination of nervousness and rheumatism, "both of which torments wreaked their utmost malice on my unhappy head." Porter wishes her friend a pleasant two-month stay on the Continent and asks about her traveling companions. She promises to present her friend to her brother upon his return from his travels in 18 months and makes some observations on society and human nature. Porter is remembered as the author of novels like _Thaddeus of Warsaw _ (1803) and _The Scottish Chiefs_ (1804) about William Wallace. The brother referred to here may be Robert Ker Porter, the painter, to whom Jane was devoted
X-inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
No full textPurpose: Leber hereditary optic neuropathy (LHON) is a common cause of genetically determined blindness in young adults. LHON preferentially affects males and is primarily due to a mutation affecting complex I genes of mitochondrial DNA (mtDNA). While LHON primarily affects men, a number of women are affected. Segregation analysis has implicated an interacting recessive X-chromosomal locus, with skewed X-inactivation as an explanation for visual failure in affected women. Small studies have failed to detect dramatic skewed X-inactivation in women transmitting LHON mutations. However, segregation analyses predicted skewing only in a proportion of women, which would not have been detected in these studies. Methods: The aim of the present study was to determine whether affected or unaffected women with LHON have subtle skewed X-inactivation patterns as a whole, or whether extreme skewing was more common in affected women than in unaffected women. Results: We studied X-inactivation by measuring methylation status of the androgen receptor (AR)-(CAG) repeat in 192 women homoplasmic for established LHON mtDNA mutations and 96 healthy female controls. Conclusions: We found no evidence of subtle skewed X-inactivation or an excess of skewed inactivation in affected or unaffected women with LHON mtDNA mutations. The frequency of AR homozygotes was greater in affected LHON females than unaffected women or healthy controls, implicating the androgen receptor in the pathophysiology of LHON either directly, or through linkage disequilibrium with a different visual loss susceptibility gene
POLG1 in idiopathic Parkinson disease
No full textWe studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population
OPA1 in multiple mitochondrial DNA deletion disorders
No full textDisorders of mitochondrial DNA (mtDNA) maintenanceare a major cause of sporadic and inheritedneurologic disease,1 but the underlying nuclear genedefects have yet to be identified in many patients.Following the recent description of multiple mtDNAdeletions in seven families with mutations inOPA1,2-4 we determined the frequency of OPA1 mutationsin adult patients with multiple mtDNA deletionswho did not have mutations in POLG1,POLG2, SLC25A4, and PEO1
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