Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Intrinsically Disordered Proteins

Intrinsically Disordered Proteins

Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...

Mutations in Microorganisms

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Early Neurological Complications Following Pediatric Liver Transplantation.

Pediatric transplantation·2026

Same author

Community-Acquired Pneumonia in Young Children: Variables Associated With Emergency Department Attendance and Hospitalization.

International journal of pediatrics·2026

Same author

Early Assessment of Teplizumab Treatment Response Using Continuous Glucose Monitoring.

Diabetes technology & therapeutics·2026

Same author

Human biliary atresia extrahepatic cholangiocyte organoids express increased ER and oxidative stress, altered drug metabolism and cell polarity changes.

Frontiers in bioengineering and biotechnology·2026

Same author

Health Outcomes Associated with Asymptomatic <i>Toxoplasma gondii</i> Seropositivity in Young Adults: A Nationwide Matched Cohort Study.

Microorganisms·2026

Same author

Islet autoantibody profiles at diagnosis of childhood type 1 Diabetes: Age-Dependent heterogeneity and clinical implications.

Diabetes research and clinical practice·2026

Search research articles

Related Experiment Video

Updated: Feb 15, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?]

Merav Gil-Margolis¹, Yael Mozer-Glassberg^2,3, Ana Tobar^4,3

¹Pediatrics A, Schneider Children's Medical Center of Israel.

|January 29, 2018

Summary

Bi-allelic mutations in the TRMU gene cause reversible infantile liver failure. Extra-hepatic manifestations are common, but most patients experience spontaneous recovery with a good long-term prognosis.

More Related Videos

Generation of a Rat Model of Acute Liver Failure by Combining 70% Partial Hepatectomy and Acetaminophen

Generation of a Rat Model of Acute Liver Failure by Combining 70% Partial Hepatectomy and Acetaminophen

Published on: November 27, 2019

Heterotopic Auxiliary Rat Liver Transplantation With Flow-regulated Portal Vein Arterialization in Acute Hepatic Failure

Heterotopic Auxiliary Rat Liver Transplantation With Flow-regulated Portal Vein Arterialization in Acute Hepatic Failure

Published on: September 13, 2014

Related Experiment Videos

Last Updated: Feb 15, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Generation of a Rat Model of Acute Liver Failure by Combining 70% Partial Hepatectomy and Acetaminophen

Generation of a Rat Model of Acute Liver Failure by Combining 70% Partial Hepatectomy and Acetaminophen

Published on: November 27, 2019

Heterotopic Auxiliary Rat Liver Transplantation With Flow-regulated Portal Vein Arterialization in Acute Hepatic Failure

Heterotopic Auxiliary Rat Liver Transplantation With Flow-regulated Portal Vein Arterialization in Acute Hepatic Failure

Published on: September 13, 2014

Area of Science:

Genetics and Molecular Biology
Pediatric Gastroenterology and Hepatology
Rare Genetic Diseases

Background:

Bi-allelic mutations in the TRMU gene are known to cause reversible infantile liver failure.
Extra-hepatic manifestations in patients with TRMU gene mutations are not well-characterized.
This study investigates the clinical spectrum and outcomes of infantile liver failure due to TRMU gene mutations.

Observation:

Two infants presented with severe, life-threatening liver failure, lactic acidosis, elevated alpha-fetoprotein, and hypoglycemia.
Both infants exhibited significant extra-hepatic findings, including hypothyroidism, macrocytic anemia, and microcephaly.
Both infants were of Jewish Yemenite descent and carried a homozygous Y77H mutation in the TRMU gene.

Findings:

TRMU bi-allelic mutations lead to severe, life-threatening liver failure with common extra-hepatic involvement.
Literature review identified 19 additional patients, with 31% showing extra-hepatic manifestations like myopathic weakness, cardiomyopathy, and microcephaly.
The homozygous Y77H genotype, prevalent in Jewish Yemenite patients, was associated with 100% survival and recovery.

Implications:

Early genetic testing for the TRMU Y77H mutation is crucial for infants of Jewish Yemenite descent presenting with liver failure.
Pediatricians should be aware of this condition and its common mutation in Israel.
Despite severe initial presentation, most patients achieve complete recovery, highlighting the importance of recognizing this treatable genetic disorder.