Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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,...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

You might also read

Related Articles

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

Sort by
Same author

Complex Periprosthetic Humerus Fracture with Failed Osteosynthesis in an Elderly Osteoporotic Woman Managed with Vascularized Fibular Graft Augmented Fixation: A Case Report.

Journal of orthopaedic case reports·2025
Same author

Salivary interleukin-10 and interleukin-17 - Potential biomarkers for assessing oral cancer and oral potentially malignant disorders - A comparative study.

Indian journal of cancer·2025
Same author

Development of Sn-doped ZnO based ecofriendly piezoelectric nanogenerator for energy harvesting application.

Nanotechnology·2020
Same author

Efficacy of Bromelain along with Trypsin, Rutoside Trihydrate Enzymes and Diclofenac Sodium Combination Therapy for the treatment of TMJ Osteoarthritis - A Randomised Clinical Trial.

Journal of clinical and diagnostic research : JCDR·2017
Same author

Snakebite-induced acute kidney injury requiring dialysis in second trimester of pregnancy: Successful outcomes in a therapeutic quagmire.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia·2017
Same author

A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports.

Indian journal of dental research : official publication of Indian Society for Dental Research·2017

Related Experiment Video

Updated: Jun 16, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

Progeria.

S S Mohamed Riyaz1, S Jayachandran

  • 1Department of Oral Medicine, Diagnosis and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai, India.

Indian Journal of Dental Research : Official Publication of Indian Society for Dental Research
|February 9, 2010
PubMed
Summary
This summary is machine-generated.

Hutchinson Gilford Progeria Syndrome (HGPS) is a rare genetic disorder causing rapid premature aging. This case study presents a 30-year-old male with HGPS, detailing diagnosis and literature review.

More Related Videos

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)
08:46

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)

Published on: March 7, 2017

Related Experiment Videos

Last Updated: Jun 16, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)
08:46

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)

Published on: March 7, 2017

Area of Science:

  • Genetics
  • Gerontology
  • Rare Diseases

Background:

  • Hutchinson Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by accelerated aging.
  • It is typically diagnosed in childhood and leads to early mortality, often from cardiovascular complications like myocardial infarction or stroke.

Observation:

  • This report details a unique case of a 30-year-old male exhibiting clinical and radiological signs strongly indicative of HGPS.
  • The patient's presentation at this advanced age for HGPS is noteworthy.

Findings:

  • The case involves a comprehensive review of differential diagnoses for conditions mimicking HGPS.
  • Specific dental considerations pertinent to HGPS patients are discussed.
  • A thorough literature review on HGPS is provided.

Implications:

  • This case expands the understanding of the potential age spectrum for Hutchinson Gilford Progeria Syndrome.
  • It highlights the importance of considering HGPS in adult patients with suggestive phenotypes.
  • The findings underscore the need for specialized dental care and diagnostic approaches in atypical HGPS presentations.