bims-curels 2023-12-10 papers

Issue of 2023‒12‒10
six papers selected by
Cure Mito Foundation

Curr Opin Endocrinol Diabetes Obes. 2023 Dec 05.

Endocrine features of primary mitochondrial diseases.

Lindsay Romo, Nina B Gold, Melissa A Walker.

PURPOSE OF REVIEW: Primary mitochondrial diseases are one of the most prevalent groups of multisystem genetic disorders. Endocrinopathies associated with mitochondrial diseases may have clinical features that are distinct from the more common forms. We provide an overview of mitochondrial disorder genetics and phenotypes, focusing on recent studies regarding identification and treatment of associated endocrinopathies.RECENT FINDINGS: Known endocrine phenotypes of mitochondrial disorders continue to expand, and now include growth hormone deficiency, hypogonadism, precocious puberty, hypoparathyroidism, hypo- and hyperthyroidism, diabetes, and adrenal insufficiency. Recent studies suggest several genotype-phenotype correlations, including those related to nuclear variants. Diagnosis is important, as special considerations should be made in the management of endocrinopathies in mitochondrial patients. Finally, new mitochondrial replacement strategies may soon be available for women interested in preventing mitochondrial disease transmission to offspring.
SUMMARY: Patients with multiple endocrinopathies or atypical endocrinopathies should be evaluated for primary mitochondrial disease, as a diagnosis may impact management of these individuals.

DOI: https://doi.org/10.1097/MED.0000000000000848

J Prof Nurs. 2023 Nov-Dec;49:pii: S8755-7223(23)00122-9. [Epub ahead of print]49 40-43

Creating successful patient partnerships in healthcare education to potentially improve students' understanding of patient-centered care.

Sarah Kostiuk, Leah Winkler, Chau Ha, Michelle Dalidowicz, Jayne Naylen Hobach, Wumi Obafemi, Anita Cameron, Madeline Press.

Healthcare systems around the world are constantly evolving to meet the diverse needs of the people they serve. Patient-centered care is recognized as a crucial element in providing high-quality care (Najafizada et al., 2021; Anderson & Gagliardi, 2021; Kwame & Petrucka, 2021). However, there is a recognized need to enhance patient-centered care's application in practice (Edgman-Levitan & Schoenbaum, 2021; Macarthur et al., 2021). To improve healthcare students' understanding of patient-centered care in practice, educational institutions can adopt innovative approaches to teaching. One strategy that shows promise is to include patient partners in the education of healthcare curricula (Merav and Ohad, 2017; Jury, 2022). By engaging patient partners, students can gain valuable insights into the care needs of individuals living with various conditions and then hopefully implement that into their practice. To effectively involve patient partners in healthcare curricula, educational organizations should establish patient partnership programs that foster meaningful collaboration. Involving patient partners in the creation, design, delivery, and evaluation of patient partnership programs may enhance partnerships and sustain active participation. Through collaborative efforts with patient partners, educational institutions can create policies that support and prioritize patient engagement, ultimately enriching the learning experience for students and promoting patient-centered care in practice.

Keywords: Education; Healthcare; Patient partnerships; Patient-centered care

DOI: https://doi.org/10.1016/j.profnurs.2023.08.005

Mol Syndromol. 2023 Dec;14(6): 459-460

Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease.

Burcu Civelek Ürey, Ahmet Cevdet Ceylan, Büşranur Çavdarlı, Ayşegül Neşe Çıtak Kurt, Oya Kıreker Köylü, Burak Yürek, Çiğdem Seher Kasapkara.

Keywords: Leigh syndrome phenotype; Metabolic diseases; Mitochondrial disease; Succinate dehydrogenase deficiency; Whole-exome sequencing

DOI: https://doi.org/10.1159/000531668

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Sept 28;48(9):pii: 1672-7347(2023)09-1388-09. [Epub ahead of print]48(9): 1388-1396

Adeno-associated virus-mediated gene therapy for rare pediatric neurogenetic diseases: Current status and outlook.

Xiaole Wang, Xueqin Lin, Hailan He, Jing Peng.

Rare pediatric neurogenetic diseases always have early onset, no specific therapy, high mortality, and pose a severe risk to the health and survival of children. Adeno-associated virus (AAV)-mediated gene therapy, a type of disease-modifying therapy, provides a new option for the treatment of rare pediatric neurogenetic diseases and represents a significant advancement in the field. Currently, the US Food and Drug Administration (FDA) and the European Medicines Association (EMA) have approved AAV-mediated gene therapy medications for treating spinal muscular atrophy, aromatic L-amino acid decarboxylase deficiency, and Duchenne muscular dystrophy. Numerous preclinical and clinical trial research findings from recent years indicate that AAV-mediated gene therapy has a promising future in treating genetic disorders. The quick approval process for rare diseases medications may bring hope for the treatment of children with rare neurogenetic diseases. AAV-mediated gene therapy is an emerging technology with certain risks and challenges. It is necessary to establish a standardized regulatory system and a sound long-term follow-up system to evaluate the efficacy and safety of gene therapy.

Keywords: adeno-associated virus; gene therapy; rare pediatric neurogenetic diseases

DOI: https://doi.org/10.11817/j.issn.1672-7347.2023.220639

EXCLI J. 2023 ;22 1077-1091

Exploring mito-nuclear genetic factors in Leber's hereditary optic neuropathy: insights from comprehensive profiling of unique cases.

Prakash Chermakani, Poigaialwar Gowri, Shanmugam Mahesh Kumar, Periasamy Sundaresan.

Leber's hereditary optic neuropathy (LHON) is a mitochondrial complex I disorder and causes inexorable painless vision loss. Recent studies from India reported that a significant proportion of LHON patients lack primary mitochondrial DNA mutations, suggesting that alternative genetic factors contribute to disease development. Therefore, this study investigated the genetic profile of LHON-affected individuals in order to understand the role of mito-nuclear genetic factors in LHON. A total of thirty probands displaying symptoms consistent with LHON have undergone whole mitochondrial and whole exome sequencing. Interestingly, whole mtDNA sequencing revealed primary mtDNA mutations in 30 % of the probands (n=9), secondary mtDNA mutations in 40 % of the probands (n=12) and no mitochondrial changes in 30 % of individuals (n=9). Further, WES analysis determined pathogenic mutations in 11 different nuclear genes, especially in cases with secondary mtDNA mutations (n=6) or no mtDNA mutations (n=6). These findings provide valuable insight into LHON genetic predisposition, particularly in cases lacking primary mtDNA mutations. See also Figure 1(Fig. 1).

Keywords: arLHON; mito-nuclear genetic factors; mitochondrial complex I disorder; optic atrophy and vision loss; retinoganglion degeneration

DOI: https://doi.org/10.17179/excli2023-6297

Res Involv Engagem. 2023 Dec 06. 9(1): 111

Create to Collaborate: using creative activity and participatory performance in online workshops to build collaborative research relationships.

Alice Malpass, Astrid Breel, Jo Stubbs, Tassos Stevens, Persis-Jadé Maravala, Ellie Shipman, Zoe Banks Gross, Michelle Farr.

BACKGROUND: Creative methods/practices have been highlighted as helpful to develop more collaborative, equitable research partnerships between researchers and communities/public-participants. We asked artist partners to design four online workshops, one on each research priority area: school environments and mental health; wellbeing within the Somali community; air pollution; health data. We aimed to understand whether creative processes can enable public-participants and researcher- participants to meet in a neutral space to discuss a research theme and begin to build collaborative relationships through more equal engagement. Ideas could be taken forwards with seed funding, providing opportunity for collaboration to continue beyond initial workshops.METHODS: Different artist partners designed and facilitated four workshops. Evaluation data was collected on each workshop using participatory observation and fieldnotes, alongside chatlog data, and one-to-one interviews with 21 workshop participants, providing a contextually rich, comparative evaluation across four diverse workshops. Analysis was thematically driven.
RESULTS: Artist partners took different approaches to designing workshops. The workshops began with introductory games and activities, and there was less emphasis on introductions of people's roles, with the intention to avoid hierarchical dynamics. Whilst public-participants enjoyed this, some researchers found it challenging and reported confusions over their workshop roles. Disrupting usual practice and challenging norms was not always an easy experience. There were examples where emergent, co-created knowledge was enabled. However, it was more challenging to facilitate longer-term collaborative research projects from the workshops due to different stakeholder priorities, and lack of staff time/ less sense of ownership for further work.
CONCLUSIONS: Creative activities can influence and impact the types of conversations between public-participants and researchers in a way that changes and challenges power dynamics, shifting towards public-participant driven discussion. Whilst deconstructing hierarchies is important, supporting researchers is key so that any discomfort can be productive and experienced as a vital part of co-production. Longer term collaborative research projects were limited, highlighting a need for facilitation beyond initial workshops, and a sense of ownership from workshop participants to take things forwards. Workshops like these may lend themselves well to research prioritisation. However, taking community-led ideas forwards within research funding landscapes remains challenging.

Keywords: Collaborative research; Creative activity; Creative partnerships; Participatory performance; Public engagement; Public involvement

DOI: https://doi.org/10.1186/s40900-023-00512-8