POLG gene - Neonatal Disorders

What is the POLG Gene?

The POLG gene encodes the catalytic subunit of DNA polymerase gamma, which is essential for the replication and repair of mitochondrial DNA (mtDNA). Mutations in this gene can lead to a range of mitochondrial diseases, which are particularly relevant in pediatric patients.

What Conditions are Associated with POLG Mutations?

POLG mutations are linked to a spectrum of disorders. Common conditions include Alpers-Huttenlocher syndrome (AHS), progressive external ophthalmoplegia (PEO), and mitochondrial DNA depletion syndrome (MDDS). These conditions often manifest in early childhood and can have severe neurological and systemic impacts.

How do POLG Mutations Present in Pediatric Patients?

Pediatric patients with POLG mutations may present with a variety of symptoms. These can include developmental delay, seizures, muscle weakness, and liver dysfunction. The presentation can be highly variable, even among patients with the same mutation, making diagnosis challenging.

What Diagnostic Tests are Available?

Diagnosing POLG-related disorders typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Genetic testing is crucial for identifying specific POLG mutations. Muscle biopsies and mtDNA analysis may also be conducted to assess mitochondrial function.

What are the Treatment Options?

Currently, there is no cure for POLG-related disorders. Treatment is primarily supportive and symptomatic. This can include the management of seizures, nutritional support, and physical therapy. Liver transplantation might be considered in cases of severe hepatic involvement. Early intervention and multidisciplinary care are essential.

What is the Prognosis for Affected Children?

The prognosis for children with POLG mutations varies depending on the specific disorder and the severity of symptoms. Conditions like Alpers-Huttenlocher syndrome often have a poor prognosis, with many children experiencing severe neurological decline. However, milder forms like PEO may have a better outlook with appropriate management.

How Can Genetic Counseling Help?

Genetic counseling is invaluable for families affected by POLG mutations. It can provide information on the inheritance patterns, risks for future pregnancies, and the implications of the disorder. Counseling can also offer emotional support and resources for managing the condition.

Relevant Publications

Genetic profiling of azoospermic men to identify the etiology and predict reproductive potential.

Issue Release: 2024

Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.

Issue Release: 2024

Genetic evaluation in indeterminate acute liver failure: A post hoc analysis.

Issue Release: 2024

Genome sequencing reanalysis increases the diagnostic yield in dystonia.

Issue Release: 2024

The NAD Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers\' Disease.

Issue Release: 2024

PINK1 regulated mitophagy is evident in skeletal muscles.

Issue Release: 2024

Oculomasticatory rhythmic movements, insomnia and stroke-like episodes in a patient with POLG mutation.

Issue Release: 2024

A DNA Polymerase Subunit Gamma (POLG) Mutation Imposing a Difficult Differential Diagnosis of Hepatic Encephalopathy in a Newborn: A Case Report.

Issue Release: 2024

Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial.

Issue Release: 2024

Linking pathogenic and likely pathogenic gene variants to long-COVID symptoms.

Issue Release: 2023

Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report.

Issue Release: 2023

DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?

Issue Release: 2023

Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.

Issue Release: 2023

[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].

Issue Release: 2023

A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.

Issue Release: 2023

The effects of nuclear DNA mutations on mitochondrial function.

Issue Release: 2023

Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson\'s Disease in Sporadic Moroccan Patients.

Issue Release: 2023

Screening of genes interacting with high myopia and neuropsychiatric disorders.

Issue Release: 2023

Stroke-like episodes in adult mitochondrial disease.

Issue Release: 2023

RIPRETINIB INDUCED SKELETAL MUSCLE TOXICITY THROUGH MITOCHONDRIAL IMPAIRMENT IN C2C12 MYOTUBES.

Issue Release: 2023

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