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Article ; Online: Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?

Saneto, Russell P / Karaa, Amel

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

2023 Volume 20, Issue 6, Page(s) 1694–1695

MeSH term(s)	Humans ; Quality of Life ; Muscle Fatigue ; Mitochondrial Diseases ; Muscle Strength
Language	English
Publishing date	2023-09-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	2316693-9
ISSN	1878-7479 ; 1933-7213
ISSN (online)	1878-7479
ISSN	1933-7213
DOI	10.1007/s13311-023-01445-6
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Article ; Online: Early-Life Epilepsies.

Akiyama, Lisa F / Saneto, Russell P

Pediatric annals

2023 Volume 52, Issue 10, Page(s) e381–e387

Abstract: Epilepsies are a diverse group of neurological disorders characterized by recurrent seizures. One-third of epilepsies are refractory to standard antiseizure medications. Epilepsy incidence is age-dependent with high incidence in neonates and infants. ... ...

Abstract	Epilepsies are a diverse group of neurological disorders characterized by recurrent seizures. One-third of epilepsies are refractory to standard antiseizure medications. Epilepsy incidence is age-dependent with high incidence in neonates and infants. Epilepsy syndromes are classified based on clinical, electrographic, neuroimaging, age-dependent features of onset and the possibility of remission. Advances in genetic testing technology and improved access to clinical genetic testing, including whole exome sequencing, have facilitated a fundamental shift in gene discovery of monogenetic and polygenetic epilepsy, leading to precision medicine therapy and improved outcomes. Here, we review the self-limited epilepsy syndromes and developmental and epileptic encephalopathies that begin in the neonatal-infantile period with an emphasis on genetic etiology and the shifting landscape of treatment options based on genetic findings.
MeSH term(s)	Infant ; Infant, Newborn ; Humans ; Epilepsy/etiology ; Epilepsy/genetics ; Epileptic Syndromes/genetics ; Seizures ; Genetic Testing ; Epilepsy, Generalized/genetics
Language	English
Publishing date	2023-10-01
Publishing country	United States
Document type	Review ; Journal Article
ZDB-ID	195430-1
ISSN	1938-2359 ; 0090-4481
ISSN (online)	1938-2359
ISSN	0090-4481
DOI	10.3928/19382359-20230829-01
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Zs.A 1347: Show issues

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Article: Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.

Saneto, Russell P

Journal of translational genetics and genomics

2020 Volume 4, Page(s) 384–428

Abstract: Mitochondrial diseases are clinically and genetically heterogeneous. These diseases were initially described a little over three decades ago. Limited diagnostic tools created disease descriptions based on clinical, biochemical analytes, neuroimaging, and ...

Abstract	Mitochondrial diseases are clinically and genetically heterogeneous. These diseases were initially described a little over three decades ago. Limited diagnostic tools created disease descriptions based on clinical, biochemical analytes, neuroimaging, and muscle biopsy findings. This diagnostic mechanism continued to evolve detection of inherited oxidative phosphorylation disorders and expanded discovery of mitochondrial physiology over the next two decades. Limited genetic testing hampered the definitive diagnostic identification and breadth of diseases. Over the last decade, the development and incorporation of massive parallel sequencing has identified approximately 300 genes involved in mitochondrial disease. Gene testing has enlarged our understanding of how genetic defects lead to cellular dysfunction and disease. These findings have expanded the understanding of how mechanisms of mitochondrial physiology can induce dysfunction and disease, but the complete collection of disease-causing gene variants remains incomplete. This article reviews the developments in disease gene discovery and the incorporation of gene findings with mitochondrial physiology. This understanding is critical to the development of targeted therapies.
Language	English
Publishing date	2020-09-29
Publishing country	United States
Document type	Journal Article
ISSN	2578-5281
ISSN	2578-5281
DOI	10.20517/jtgg.2020.40
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease.

Saneto, Russell P / Perez, Francisco A

Frontiers in molecular biosciences

2022 Volume 9, Page(s) 908721

Abstract: Communication between intracellular organelles is essential for overall cellular function. How this communication occurs and under what circumstances alterations transpire are only the beginning to be elucidated. The pathways of calcium homeostasis, ... ...

Abstract	Communication between intracellular organelles is essential for overall cellular function. How this communication occurs and under what circumstances alterations transpire are only the beginning to be elucidated. The pathways of calcium homeostasis, lipid transfer, mitochondrial dynamics, and mitophagy/apoptosis have been linked to the endoplasmic reticulum and tethering sites on the outer and/or inner mitochondrial membrane called mitochondria-associated endoplasmic reticulum membranes (MAM). Sensitive visualization by high-powered microscopy coupled with the advent of massive parallel sequencing has elaborated the structure, while patient's diseases have uncovered the physiological function of these networks. Using specific patient examples from our pediatric mitochondrial center, we expand how specific genetic pathological variants in certain MAM structures induce disease. Genetic variants in
Language	English
Publishing date	2022-06-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2814330-9
ISSN	2296-889X
ISSN	2296-889X
DOI	10.3389/fmolb.2022.908721
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Article: Genetics of Mitochondrial Disease.

Saneto, Russell P

Advances in genetics

2017 Volume 98, Page(s) 63–116

Abstract: Mitochondria are intracellular organelles responsible for adenosine triphosphate production. The strict control of intracellular energy needs require proper mitochondrial functioning. The mitochondria are under dual controls of mitochondrial DNA (mtDNA) ... ...

Abstract	Mitochondria are intracellular organelles responsible for adenosine triphosphate production. The strict control of intracellular energy needs require proper mitochondrial functioning. The mitochondria are under dual controls of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Mitochondrial dysfunction can arise from changes in either mtDNA or nDNA genes regulating function. There are an estimated ∼1500 proteins in the mitoproteome, whereas the mtDNA genome has 37 proteins. There are, to date, ∼275 genes shown to give rise to disease. The unique physiology of mitochondrial functioning contributes to diverse gene expression. The onset and range of phenotypic expression of disease is diverse, with onset from neonatal to seventh decade of life. The range of dysfunction is heterogeneous, ranging from single organ to multisystem involvement. The complexity of disease expression has severely limited gene discovery. Combining phenotypes with improvements in gene sequencing strategies are improving the diagnosis process. This chapter focuses on the interplay of the unique physiology and gene discovery in the current knowledge of genetically derived mitochondrial disease.
Language	English
Publishing date	2017
Publishing country	United States
Document type	Journal Article
ZDB-ID	148-x
ISSN	0065-2660
ISSN	0065-2660
DOI	10.1016/bs.adgen.2017.06.002
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Article: Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team.

Saneto, Russell P

Journal of multidisciplinary healthcare

2016 Volume 9, Page(s) 323–333

Abstract: Alpers-Huttenlocher syndrome (AHS) is a mitochondrial DNA-depletion syndrome. Age of onset is bimodal: early onset at 2-4 years and later adolescent onset at 17-24 years of age. Early development is usually normal, with epilepsy heralding the disorder in ...

Abstract	Alpers-Huttenlocher syndrome (AHS) is a mitochondrial DNA-depletion syndrome. Age of onset is bimodal: early onset at 2-4 years and later adolescent onset at 17-24 years of age. Early development is usually normal, with epilepsy heralding the disorder in ~50% of patients. The onset of seizures is coupled with progressive cognitive decline. Hepatopathy is variable, and when present is a progressive dysfunction leading to liver failure in many cases. These features of seizures, cognitive degeneration, and hepatopathy represent the "classic triad" of AHS. However, most patients develop other system involvement. Therefore, although AHS is ultimately a lethal disorder, medical care is required for sustained quality of life. Frequently, additional organ systems - gastrointestinal, respiratory, nutritional, and psychiatric - abnormalities appear and need treatment. Rarely, cardiovascular dysfunction and even pregnancy complicate medical treatment. Optimal care requires a team of physicians and caretakers to make sure quality of life is optimized. The care team, together with the family and palliative care specialists, need to be in communication as the disease progresses and medical changes occur. Although the unpredictable losses of function challenge medical care, the team approach can foster the individual quality-of-life care needed for the patient and family.
Language	English
Publishing date	2016-07-26
Publishing country	New Zealand
Document type	Journal Article ; Review
ZDB-ID	2453343-9
ISSN	1178-2390
ISSN	1178-2390
DOI	10.2147/JMDH.S84900
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Article ; Online: Thoughts from the clinic: Marijuana, is it medicine or recreational drug?

Saneto, Russell P

Epilepsy & behavior : E&B

2015 Volume 47, Page(s) 75–77

Language	English
Publishing date	2015-06
Publishing country	United States
Document type	Editorial
ZDB-ID	2010587-3
ISSN	1525-5069 ; 1525-5050
ISSN (online)	1525-5069
ISSN	1525-5050
DOI	10.1016/j.yebeh.2015.05.006
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Zs.A 5289: Show issues

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Article ; Online: Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum

Russell P. Saneto / Francisco A. Perez

Frontiers in Molecular Biosciences, Vol

A Dynamic Pathway of Developmental Disease

2022 Volume 9

Abstract	Communication between intracellular organelles is essential for overall cellular function. How this communication occurs and under what circumstances alterations transpire are only the beginning to be elucidated. The pathways of calcium homeostasis, lipid transfer, mitochondrial dynamics, and mitophagy/apoptosis have been linked to the endoplasmic reticulum and tethering sites on the outer and/or inner mitochondrial membrane called mitochondria-associated endoplasmic reticulum membranes (MAM). Sensitive visualization by high-powered microscopy coupled with the advent of massive parallel sequencing has elaborated the structure, while patient’s diseases have uncovered the physiological function of these networks. Using specific patient examples from our pediatric mitochondrial center, we expand how specific genetic pathological variants in certain MAM structures induce disease. Genetic variants in MICU1, PASC-2, CYP2U1, SERAC1, and TANGO2 can induce early development abnormalities in the areas of cognition, motor, and central nervous system structures across multiple MAM pathways and implicate mitochondrial dysregulation.
Keywords	mitochondria-associated endoplasmic reticulum membrane ; calcium ; autophagy ; phospholipids ; fatty acid metabolism ; gene products ; Biology (General) ; QH301-705.5
Subject code	570
Language	English
Publishing date	2022-06-01T00:00:00Z
Publisher	Frontiers Media S.A.
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.

Saneto, Russell P / Patrick, Kristina E / Perez, Francisco A

Mitochondrion

2021 Volume 59, Page(s) 58–62

Abstract: Leigh syndrome is a progressive neurodegenerative syndrome caused by multiple mitochondrial DNA and nuclear DNA pathological variants. Patients with Leigh syndrome consistently have distinct brain lesions found on MRI scanning involving abnormal signal ... ...

Abstract	Leigh syndrome is a progressive neurodegenerative syndrome caused by multiple mitochondrial DNA and nuclear DNA pathological variants. Patients with Leigh syndrome consistently have distinct brain lesions found on MRI scanning involving abnormal signal in the basal ganglia, brainstem and/or cerebellum. Other clinical findings vary depending on the genetic etiology and epigenetic factors. Mitochondrial DNA-derived Leigh syndrome phenotype is thought to be modulated by heteroplasmy level. The classic example is the clinical expression of the pathological variant, m. 8993 T>G. At heteroplasmy levels above 90%, the resulting phenotype is Leigh syndrome, but at levels 70-90% patients present with a syndrome of neuropathy, ataxia and retinitis pigmentosa. We describe a 15-year old girl with homoplasmic variant in m.8993 T>G and clinical and biochemical findings consistent with Leigh syndrome but with normal brain MRI findings and without retinal abnormalities or ataxia.
MeSH term(s)	Adolescent ; Ataxia/genetics ; Brain/diagnostic imaging ; Brain/metabolism ; Female ; Heteroplasmy ; Humans ; Leigh Disease/diagnostic imaging ; Leigh Disease/genetics ; Leigh Disease/pathology ; Magnetic Resonance Imaging ; Phenotype ; Polymorphism, Single Nucleotide ; Retina/abnormalities
Language	English
Publishing date	2021-04-22
Publishing country	Netherlands
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2056923-3
ISSN	1872-8278 ; 1567-7249
ISSN (online)	1872-8278
ISSN	1567-7249
DOI	10.1016/j.mito.2021.04.010
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Hypermetabolic Syndrome and Dyskinesia After Neurologic Surgery for Labrune Syndrome: A Case Report.

Holland, Erica L / Saneto, Russell P / Knipper, Emily K

A&A practice

2020 Volume 14, Issue 7, Page(s) e01212

Abstract: A 20-year-old man with a rare neurodegenerative disease developed hypermetabolic symptoms with dyskinesia after a third ventriculostomy for hydrocephalus. The initial presentation was concerning for an acute dystonic reaction after metoclopramide was ... ...

Abstract	A 20-year-old man with a rare neurodegenerative disease developed hypermetabolic symptoms with dyskinesia after a third ventriculostomy for hydrocephalus. The initial presentation was concerning for an acute dystonic reaction after metoclopramide was administered for nausea. He concurrently developed hypermetabolic symptoms, including hyperthermia, tachycardia, and a lactic acidosis. The diagnosis was broadened to include neuroleptic malignant syndrome, serotonin syndrome, and malignant hyperthermia. Although perhaps less intellectually satisfying but more true to clinical reality, we did not isolate a single diagnosis but treated effectively all 3 with dantrolene sodium and benzodiazepine.
MeSH term(s)	Acidosis, Lactic/etiology ; Adult ; Antiemetics/adverse effects ; Calcinosis/surgery ; Central Nervous System Cysts/surgery ; Dopamine D2 Receptor Antagonists/adverse effects ; Dyskinesias/etiology ; Exanthema/etiology ; Humans ; Hydrocephalus/surgery ; Leukoencephalopathies/surgery ; Male ; Malignant Hyperthermia/etiology ; Metoclopramide/adverse effects ; Neurodegenerative Diseases/surgery ; Postoperative Period ; Syndrome ; Ventriculostomy ; Young Adult
Chemical Substances	Antiemetics ; Dopamine D2 Receptor Antagonists ; Leukoencephalopathy Brain Calcifications and Cysts ; Metoclopramide (L4YEB44I46)
Language	English
Publishing date	2020-05-05
Publishing country	United States
Document type	Case Reports ; Journal Article
ISSN	2575-3126
ISSN (online)	2575-3126
DOI	10.1213/XAA.0000000000001212
Database	MEDical Literature Analysis and Retrieval System OnLINE

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