Related Experiment Video

Updated: Feb 24, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.3K

Founder mutation for Huntington disease in Caucasus Jews

O Melamed1, D M Behar, C Bram

  • 1The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.

Clinical Genetics
|January 11, 2014
PubMed

Insights

Huntington disease (HD) is more prevalent in Caucasus Jews (CJ) due to a recent founder mutation. This suggests a higher incidence in this group, warranting increased clinical suspicion for HD in CJ individuals.

Area of Science:

  • Genetics
  • Neurology
  • Population Studies

Background:

  • Huntington disease (HD) is an autosomal dominant neurodegenerative disorder.
  • Diagnosis and onset age are linked to CAG repeat expansion in the HTT gene.
  • HD prevalence is established in Europeans but not well-studied in Israeli populations.

Purpose of the Study:

  • To investigate the prevalence and genetic origins of Huntington disease (HD) in the Israeli population.
  • To determine if a founder mutation exists within specific Jewish subgroups.

Main Methods:

  • Haplotype analysis of ten HD probands diagnosed between 2006-2011.
  • Focus on nine Caucasus Jewish (CJ) and one Ashkenazi Jewish proband.
  • Calculation of mutation coalescence age.

Main Results:

  • Eight of nine CJ probands shared a common haplotype (A1 haplogroup), suggesting a founder effect.
  • The mutation's coalescence age was estimated between 80-150 years.
  • CJ constitute 90% of local HD patients and 27% of all Israeli HD cases, despite being 1.4% of the population.

Conclusions:

  • HD prevalence is significantly higher among Caucasus Jews (CJ) in Israel compared to the general population.
  • Findings support a recent founder mutation for HD within the CJ community.
  • Increased clinical suspicion for HD is recommended in CJ individuals presenting with subtle symptoms.

Keywords:
Caucasus JewsHuntington diseasefounder mutationhaplotype

More Related Videos

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

3.1K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

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

Published on: June 15, 2011

26.5K

Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.3K
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
2.5K
Genome-wide Association Studies-GWAS01:11

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...
15.9K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.7K
Mutations01:39

Mutations

Overview
94.9K
Mutations01:35

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...
44.8K