Related Experiment Video

Updated: Jul 3, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective

Salomé Puisieux1,2, Elise Pourié2, Céline Bonnet2,3

  • 1Department of Neurology, University Hospital of Nancy, Nancy, France.

Movement Disorders : Official Journal of the Movement Disorder Society
|July 1, 2026
PubMed

Insights

Elevated homocysteine levels are common in Huntington's disease (HD) patients and linked to faster motor progression. This suggests hyperhomocysteinemia may influence HD

Area of Science:

  • Neurology
  • Metabolic Medicine
  • Genetics

Background:

  • Elevated homocysteine levels are suspected in Huntington's disease (HD) but their clinical significance is not confirmed.
  • Understanding the role of homocysteine and vitamin B in HD pathogenesis is crucial for potential therapeutic strategies.

Purpose of the Study:

  • To evaluate vitamin B and homocysteine levels in Huntington's disease patients.
  • To investigate the association between hyperhomocysteinemia, vitamin B deficiency, and motor symptom progression in HD.

Main Methods:

  • A monocentric case-control study involving 77 HD patients and 87 controls.
  • Clinical assessment using the Unified Huntington Disease Rating Scale-Motor and biochemical evaluation of vitamin B and homocysteine levels.
  • Statistical analysis included Fisher's exact test, Wilcoxon test, and Student's t-test (P < 0.05 significance).

Main Results:

  • HD patients (symptomatic and premanifest) exhibited significantly higher homocysteine levels compared to controls.
  • Hyperhomocysteinemia was identified in approximately 48% of HD patients.
  • A significant association was found between hyperhomocysteinemia and accelerated motor progression (P < 0.001).

Conclusions:

  • Hyperhomocysteinemia is prevalent in Huntington's disease and may contribute to disease variability.
  • Findings suggest a connection between altered one-carbon metabolism and HD.
  • Further research is warranted to explore the therapeutic potential of targeting hyperhomocysteinemia in HD management.
Abstract

Keywords:
Huntington's diseaseaggravating factorshomocysteinehyperhomocysteinemiaone‐carbon metabolismvitamin B deficiency

More Related Videos

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Related Concept Videos

Huntington Disease l: Introduction01:21

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,...
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Vitamins01:30

Vitamins

Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced in our...
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
Drug Toxicity: Risk factors01:24

Drug Toxicity: Risk factors

Adverse Drug Reactions (ADRs) are potential complications that arise during pharmacotherapy, influenced by multiple risk factors. Age plays a significant role; both neonates and the elderly are at heightened risk due to their respective immature and diminished metabolic and elimination processes. Gender also impacts ADRs, with females experiencing a 1.5 to 1.7-fold greater risk than males, which may be linked to pharmacokinetic, pharmacodynamic, and hormonal differences. Notably, neonates, the...
Hypertension II: Pathophysiology01:29

Hypertension II: Pathophysiology

Hypertension is a chronic condition in which the blood's force against artery walls is excessively high, posing risks such as heart disease. The condition's underlying mechanisms involve complex interactions among the cardiovascular, kidney, and autonomic nervous systems.Renin-Angiotensin-Aldosterone System (RAAS): This system significantly influences blood pressure regulation. When blood pressure decreases, the kidneys secrete renin. This enzyme transforms angiotensinogen, a plasma protein,...