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

Huntington Disease l: Introduction

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Pedigree Analysis

Pedigree Analysis

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

Rheumatic Heart Disease I: Introduction

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...

You might also read

Related Articles

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

Sort by

Same author

TOM1 family proteins: from cargo sorting to immune dysregulation and cancer.

Cell communication and signaling : CCS·2026

Same author

Transcriptomic and proteomic insights into progressive myoclonus epilepsy type 1.

Disease models & mechanisms·2026

Same author

Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Brain communications·2025

Same author

Adipogenin promotes the development of lipid droplets by binding a dodecameric seipin complex.

Science (New York, N.Y.)·2025

Same author

Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1.

Epileptic disorders : international epilepsy journal with videotape·2025

Same author

A TOM1 variant impairs interaction with TOLLIP, autophagosome-lysosome fusion and regulation of innate immunity.

Disease models & mechanisms·2025

Search research articles

Related Experiment Video

Updated: Jun 6, 2026

Modeling Tuberculosis in Mycobacterium marinum Infected Adult Zebrafish

Modeling Tuberculosis in Mycobacterium marinum Infected Adult Zebrafish

Published on: October 8, 2018

[Finnish disease heritage].

Marjo Kestilä, Elina Ikonen, Anna-Elina Lehesjoki

Duodecim; Laaketieteellinen Aikakauskirja

|November 20, 2010

Summary

This summary is machine-generated.

The Finnish disease heritage comprises rare genetic disorders prevalent in Finland. Identifying causative mutations, like those found by Leena Palotie, aids disease diagnostics due to the founder effect.

More Related Videos

Immunization of Adult Zebrafish for the Preclinical Screening of DNA-based Vaccines

Immunization of Adult Zebrafish for the Preclinical Screening of DNA-based Vaccines

Published on: October 30, 2018

Related Experiment Videos

Last Updated: Jun 6, 2026

Modeling Tuberculosis in Mycobacterium marinum Infected Adult Zebrafish

Modeling Tuberculosis in Mycobacterium marinum Infected Adult Zebrafish

Published on: October 8, 2018

Immunization of Adult Zebrafish for the Preclinical Screening of DNA-based Vaccines

Immunization of Adult Zebrafish for the Preclinical Screening of DNA-based Vaccines

Published on: October 30, 2018

Area of Science:

Genetics
Human Population Studies
Medical Research

Context:

The Finnish disease heritage includes 36 rare hereditary diseases.
These diseases are disproportionately prevalent in the Finnish population.
The genetic basis for all 36 diseases has been identified.

Purpose:

To review key achievements in identifying genes responsible for the Finnish disease heritage.
To highlight the role of specific mutations and the founder effect in these diseases.

Summary:

Leena Palotie and collaborators have identified the genes for 15 diseases within the Finnish disease heritage.
A predominant mutation underlies many of these diseases due to Finland's population history (founder effect).
This genetic homogeneity simplifies disease diagnosis in Finland.

Impact:

Facilitates accurate and efficient diagnosis of rare hereditary diseases in Finland.
Provides a foundation for understanding genetic disease patterns in isolated populations.
Advances the field of medical genetics and personalized medicine for specific populations.