Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States

Karaa, Amel; Goldstein, Amy; Balcells, Cristy; Mann, Kira; Stanley, Laura J.; Yeske, Philip E.; Parikh, Sumit

doi:10.1016/j.ymgme.2019.05.012

Cited by 6 publications

(6 citation statements)

References 15 publications

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“…A key challenge in improving the diagnosis and treatment of mitochondrial disease is the rarity of the disease, making large-scale clinical trials challenging. As a result of the rarity of the disease, mitochondrial care networks for patients are needed to coordinate patient care nationally and internationally [47].…”

Section: Modeling Mitochondrial Diseasementioning

confidence: 99%

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Moreira

Gopal

Kotton

et al. 2021

Genes

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Mitochondria are specialized organelles involved in energy production that have retained their own genome throughout evolutionary history. The mitochondrial genome (mtDNA) is maternally inherited and requires coordinated regulation with nuclear genes to produce functional enzyme complexes that drive energy production. Each mitochondrion contains 5-10 copies of mtDNA and consequently, each cell has several hundreds to thousands of mtDNAs. Due to the presence of multiple copies of mtDNA in a mitochondrion, mtDNAs with different variants may co-exist, a condition called heteroplasmy. Heteroplasmic variants can be clonally expanded, even in post-mitotic cells, as replication of mtDNA is not tied to the cell-division cycle. Heteroplasmic variants can also segregate during germ cell formation, underlying the inheritance of some mitochondrial mutations. Moreover, the uneven segregation of heteroplasmic variants is thought to underlie the heterogeneity of mitochondrial variation across adult tissues and resultant differences in the clinical presentation of mitochondrial disease. Until recently, however, the mechanisms mediating the relation between mitochondrial genetic variation and disease remained a mystery, largely due to difficulties in modeling human mitochondrial genetic variation and diseases. The advent of induced pluripotent stem cells (iPSCs) and targeted gene editing of the nuclear, and more recently mitochondrial, genomes now provides the ability to dissect how genetic variation in mitochondrial genes alter cellular function across a variety of human tissue types. This review will examine the origins of mitochondrial heteroplasmic variation and propagation, and the tools used to model mitochondrial genetic diseases. Additionally, we discuss how iPSC technologies represent an opportunity to advance our understanding of human mitochondrial genetics in disease.

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Section: Modeling Mitochondrial Diseasementioning

confidence: 99%

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Moreira

Gopal

Kotton

et al. 2021

Genes

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“…Table 3 represents responses to the 11 questions (left column) asked of US physicians about the importance of establishing a specific MD health care network [1] . The answers from the 44 responding physicians are presented in the middle column with the number of respondents (N) and the percentage of each specific response to each question (right columns).…”

Section: Datamentioning

confidence: 99%

“… Health care providers and practice managers will find this data very useful in better understanding the health care gaps within their institutions. These data are the first step to identify the challenges and the gaps in health care delivery for mitochondrial disease in the US and will serve as road map to improve those challenges and fill those gaps [1] . …”

mentioning

confidence: 99%

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Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery

Karaa

Goldstein

Balcells³

et al. 2019

Data in Brief

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This article presents data that examine the patient's perception of health care delivery for mitochondrial disease in the US. It also presents the opinions of mitochondrial disease expert physicians about creating a specialised network of clinics to oversee the care of patients with this disease within the US. Two separate electronic surveys were developed; one for mitochondrial disease patients and their families ascertaining their satisfaction with their current health care and the challenges they face. The other for the physicians group assessing the usefulness, feasibility and readiness to develop specialized care clinics for mitochondrial disease in the US. Survey responses and descriptive analysis are presented here. The data in this article is supplemental, and supports the information presented in the research article “Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States.” Karaa et al., 2019

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“…With interest we read the article by Karaa et al about establishing an US-based institutional network meeting the increasing needs of mitochondrial disorder(MID) patients of requiring professional diagnostic and therapeutic management [1]. We have the following comments.…”

mentioning

confidence: 99%

Fractal genetics and heterogeneous phenotypes of mitochondrial disease require appropriate logistics of managing network structures

Finsterer

2019

Molecular Genetics and Metabolism Reports

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Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States

Cited by 6 publications

References 15 publications

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery

Fractal genetics and heterogeneous phenotypes of mitochondrial disease require appropriate logistics of managing network structures

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