Dita Kidere

Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling

Dita Kidere, Pawel Zayakin, Diana Livcane, Marina Makrecka‐Kuka et autres

Mitochondria are involved in many vital functions in living cells, including the synthesis of ATP by oxidative phosphorylation (OXPHOS) and regulation of nuclear gene expression through retrograde signaling. Leigh syndrome is a heterogeneous neurological disorder resulting from an isolated complex I deficiency …

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Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

Baiba Lāce, Ieva Mičule, Viktorija Ķēniņa, Signe Setlere et autres

Background and Objectives: Genetic testing has become an integral part of health care, allowing the confirmation of thousands of hereditary diseases, including neuromuscular disorders (NMDs). The reported average prevalence of individual inherited NMDs is 3.7-4.99 per 10,000. This number varies greatly in …

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Case Report: Two Families With HPDL Related Neurodegeneration

Ieva Mičule, Baiba Lāce, Nathan T. Wright, Nicolas Chrestian et autres

There are recent reports of associations of variants in the HPDL gene with a hereditary neurological disease that presents with a wide spectrum of clinical severity, ranging from severe neonatal encephalopathy with no psychomotor development to adolescent-onset uncomplicated spastic paraplegia. Here, we …

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Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity

Janis Stavusis, Ieva Mičule, Nathan T. Wright, Volker Straub et autres

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Mitochondrial physiology

Erich Gnaiger, Eleonor Aasander Frostner, Norwahidah Abdul Karim, Darı́o Acuña-Castroviejo et autres

As the knowledge base and importance of mitochondrial physiology to evolution, health and disease expands, the necessity for harmonizing the terminology concerning mitochondrial respiratory states and rates has become increasingly apparent. The chemiosmotic theory establishes the mechanism of energy transformation and coupling …

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Gnaiger E and the MitoEAGLE task group. Mitochondrial physiology

E. Abdelrahman, Nada A. Abumrad, Darı́o Acuña-Castroviejo, Reginald Adiele et autres

As the knowledge base and importance of mitochondrial physiology to evolution, health and disease expands, the necessity for harmonizing the terminology concerning mitochondrial respiratory states and rates has become increasingly apparent. The chemiosmotic theory establishes the mechanism of energy transformation and coupling …

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy

Janis Stavusis, Baiba Lāce, Jochen Schäfer, Janelle Geist et autres

Objective To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three‐generation families. Methods Clinical evaluations as well as exome and panel sequencing analyses were performed in affected and nonaffected members of two families …

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Mitochondrial respiratory states and rates

Erich Gnaiger, Eleonor Aasander Frostner, Norwahidah Abdul Karim, Nada A. Abumrad et autres

As the knowledge base and importance of mitochondrial physiology to human health expands, the necessity for harmonizing the terminology concerning mitochondrial respiratory states and rates has become increasingly apparent. The chemiosmotic theory establishes the mechanism of energy transformation and coupling in oxidative …