Molecular Neurobiology

, Volume 55, Issue 5, pp 4417–4427 | Cite as

Hutchinson–Gilford Progeria Syndrome: A Premature Aging Disease

  • Muhammad Saad Ahmed
  • Sana Ikram
  • Nousheen Bibi
  • Asif Mir
Article

Abstract

Progeria is sporadic, very rare, autosomal dominant, deadly childhood disorder. It is one of the progeroid syndromes also known as Hutchinson–Gilford progeria syndrome (HGPS). Aging is a developmental process that begins with fertilization and ends up with death involving a lot of environmental and genetic factors. The disease firstly involves premature aging and then death from complications of atherosclerosis such as myocardial infarction, stroke, atherosclerosis, or heart failure. The lifespan of the patient is normally up to teen age or early twenties. It is usually not inherited because a patient normally dies before the age of reproduction. The most important genetic linkage between progeria and aging is shortening of telomere ends with each replication cycle. The patients are normally observed to have extremely short telomeres. Currently, 90% of the patients are said to have de novo point mutations in the LMNA gene that substitute cytosine with thymine and have been found in individuals with HGPS. Lmna encodes lamins A and C, and the A-type lamins have important structural function in the nuclear envelope. The most common type of HGPS mutation is located at codon 608 (G608G). It could not be diagnosed at birth, but after the age of 2 years, visible, prominent symptoms can be observed. Still, lot of research is needed to solve this mystery; hopefully, future research on HGPS would provide important clues for progeria and other fatal age-related disorders.

Keywords

Progeria Aging Damaged DNA repair LMNA gene 

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© Springer Science+Business Media New York 2017

Authors and Affiliations

  1. 1.Department of Bioinformatics and Biotechnology, Faculty of Basic and Applied SciencesInternational Islamic UniversityIslamabadPakistan
  2. 2.Department of Biological Engineering/Institute of Biotransformation and Synthetic Biosystem, School of Life SciencesBeijing Institute of TechnologyBeijingPeople’s Republic of China
  3. 3.Beijing Advanced Innovation Center for Food Nutrition and Human HealthBeijing Technology & Business University (BTBU)BeijingPeople’s Republic of China
  4. 4.Department of BioinformaticsHazara UniversityMansehraPakistan
  5. 5.National Center for BioinformaticsQuaid-e-Azam UniversityIslamabadPakistan

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