Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
Open accessAbstract
Analysis of mitochondrial DNA from patients with Leber's hereditary optic neuropathy and their relatives showed that the previously reported mutation at base pair (bp) 11778, shown by loss of a recognition site for the restriction endonuclease SfaNI, was present in only four out of eight families. This mutation was associated with a poor prognosis for visual recovery, whereas four of five affected males without the 11778 bp mutation followed for four years or more had regained useful vision. All but one of the subjects showing the SfaNI site loss had a variable mixture of mutant and normal mitochondrial DNA in peripheral blood, and the relative proportions appeared to be correlated with the risk of developing or transmitting Leber's hereditary optic neuropathy.
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The Gill et al. investigation was the first forensic case to show the utility of mtDNA testing of old degraded material.
“The Gill et al. investigation [7] was the first forensic case to show the utility of mtDNA testing of old degraded material.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
The Patients/Methods passage describes mtDNA testing on blood samples, and the Results concern Leber’s hereditary optic neuropathy; page numbers are not provided in our copy. Searches for Gill et al., forensic cases, and old or degraded material found no passage addressing the claimed investigation or its priority. (LLM, conf=0.77)
Experimental — accuracy not yet measuredBoth Gill et al. and Ivanov et al. evaluated the evidence using a Bayesian approach under two opposing hypotheses: the remains are the Romanovs versus they are not.
“Both Gill et al. [7] and Ivanov et al. [13] evaluated the evidence in their investigations using a Bayesian approach to evaluate the weight of the evidence under two opposing hypotheses (likelihood ratio): (1) These are the remains of the Romanovs, and (2) these are not the remains of the Romanovs.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
The Results section reports mitochondrial DNA mutations in families with Leber's hereditary optic neuropathy, not an identification of the Romanovs. Searches of our copy for Romanovs, Ivanov, Gill, Bayesian analysis, and opposing hypotheses found no passage addressing the attributed claim. (LLM, conf=0.78)
Experimental — accuracy not yet measuredThe tsar's femur contained a C/T point heteroplasmy at position 16,169.
“In the femur of the tsar, Gill et al. [7] discovered the presence of a C/T point heteroplasmy at position 16,169.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
The Results discuss mitochondrial DNA heteroplasmy in families with Leber’s hereditary optic neuropathy, focusing on a mutation at position 11,778. A search of our copy for the tsar, femur, Gill, and position 16,169 found no passage addressing the claimed C/T heteroplasmy. (LLM, conf=0.78)
Experimental — accuracy not yet measuredThe tsarina's mtDNA haplotype exactly matched HRH Prince Philip in HVI and HVII.
“The comparison of the tsarina's haplotype to her distant cousin, HRH Prince Philip, was an exact match in HVI and HVII.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
The Results discuss mitochondrial DNA mutations and heteroplasmy in families with Leber’s hereditary optic neuropathy, not a comparison between the tsarina and Prince Philip. Searches for their names and for HVI/HVII haplotype matching found no passage addressing the claimed exact match. (LLM, conf=0.78)
Experimental — accuracy not yet measuredThe forensic DNA results were very conclusive in identifying the Romanov family and their servants, even though the remains of Alexei and one of his sisters were missing from the mass grave.
“Although two sets of skeletal remains belonging to Alexei and one of his sisters were missing from the mass grave, the forensic results were very conclusive in identifying the Romanov family and their servants.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
The Results passages concern mitochondrial DNA mutations in families with Leber’s hereditary optic neuropathy, not forensic identification. Searches for the Romanovs, Alexei, skeletal remains, and forensic identification found no passage addressing the claim; page numbers were not supplied. (LLM, conf=0.78)
Experimental — accuracy not yet measured
The initial work from 1993 to 1996 was a watershed moment for DNA testing, and despite attempts to discredit these studies with contaminated data, the results have withstood the test of time throughout scientific advances.
“The initial work from 1993 to 1996 [7,13] was a watershed moment for DNA testing, and despite the feeble attempts to discredit these studies with contaminated data, the results have withstood the test of time throughout scientific advances.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
The Results section reports mitochondrial DNA findings in families with Leber’s hereditary optic neuropathy, not an assessment of DNA-testing studies from 1993–1996. Searches for those years, contaminated data, and attempts to discredit the studies found no passage addressing the claim. The cited paper was published in 1989. (LLM, conf=0.78)
Experimental — accuracy not yet measuredThe Knight group concluded that the initial DNA testing of the Romanov remains was wrong because their sequence from Ella did not match HRH Prince Philip.
“Since the modern-day reference sample used by Gill et al. [7] (HRH Prince Philip) did not match their sequence from Ella, Knight et al. [26] concluded that the initial DNA testing of the Romanov remains was wrong.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
The paper’s Results discuss mitochondrial DNA mutations in families with Leber’s hereditary optic neuropathy, not the Romanov remains. Searches for Knight, Ella, Prince Philip, and the alleged mismatch found no passage addressing the claim. (LLM, conf=0.78)
Experimental — accuracy not yet measured
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- Authors
- Holt, I. J., Miller, D. H., & Harding, A. E.
- Affiliations
- UCL Queen Square Institute of Neurology (GB)
- ORCID
- Holt, I J
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1989-12
- Volume
- 26
- Issue
- 12
- Pages
- 739-743
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1015752
- OpenAlex
- W2135692668
- Cited by
- 159
- References
- 18
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 1 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 3 · 2015: 3 · 2014: 1 · 2012: 1
- FWCI
- 8.14
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Multiple Sclerosis Society
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Ophthalmology › Glaucoma and retinal disorders
- Keywords
- Leber's hereditary optic neuropathy, mitochondrial heteroplasmy, genetic heterogeneity, disease transmission, mitochondrial DNA mutations
- MeSH terms
- Adult, DNA, Mitochondrial, Electrophoresis, Agar Gel, Female, Humans, Male, Middle Aged, Mutation, Pedigree, Polymorphism, Restriction Fragment Length, Hereditary Sensory and Motor Neuropathy, Optic Atrophies, Hereditary
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