Publications by authors named "J L Poulton"
Mitochondrial DNA (mtDNA) diseases pose unique challenges for genetic counselling and require tailored approaches to address recurrence risks and reproductive options. The intricate dynamics of mtDNA segregation and heteroplasmy shift significantly impact the chances of having affected children. In addition to natural pregnancy, oocyte donation, and adoption, IVF-based approaches can reduce the risk of disease transmission.
View Article and Find Full Text PDFDrug-induced autoimmune diseases are increasingly recognized although mechanistic insight into disease causation is lacking. Hydralazine exposure has been linked to autoimmune diseases, including anti-neutrophil cytoplasmic autoantibody (ANCA) vasculitis. Our hypothesis posits that hydralazine covalently binds to myeloperoxidase (MPO), triggering the autoimmune response in ANCA vasculitis.
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- Inclusion body myositis (IBM) is a type of muscle disease that usually starts later in life and causes weakness in specific muscles, especially in the hands and knees.
- Scientists don't know exactly why it happens or how to treat it effectively yet, but they found some changes in muscle cells that could help in figuring it out.
- The review talks about the latest findings on diagnosing IBM, the role of proteins in the disease, current treatments, and new ideas for future therapies that might help people who have IBM.
Article Synopsis
- Mitochondrial DNA depletion syndrome (MDS) is a condition where patients struggle to make enough energy because they lack proper mitochondrial DNA (mtDNA).
- There’s no cure for MDS yet, but scientists are testing new treatments with special nucleoside supplements to see if they can help boost mtDNA levels in cells.
- In experiments, one specific combination of nucleosides called ATGC worked really well at helping increase mtDNA in certain cells after being depleted, although higher doses caused some toxic effects.
Leigh syndrome spectrum (LSS) is a primary mitochondrial disorder defined neuropathologically by a subacute necrotizing encephalomyelopathy and characterized by bilateral basal ganglia and/or brainstem lesions. LSS is associated with variants in several mitochondrial DNA genes and more than 100 nuclear genes, most often related to mitochondrial complex I (CI) dysfunction. Rarely, LSS has been reported in association with primary Leber hereditary optic neuropathy (LHON) variants of the mitochondrial DNA, coding for CI subunits (m.
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