Here, we propose to use a unique series of knock-in, transgenic and NER progeroid
mice to decode the functional role of NER in mammals, thus paving the way for understanding how genome maintenance pathways are connected to developmental defects and disease mechanisms in vivo.
Some Lmna mutations cause progeroid
syndromes, which are characterized by features of accelerated aging (Eriksson et al.
Velasquez has a rare genetic disorder, thought to be a form of neonatal progeroid
syndrome, which prevents her body from gaining weight.
mice age more quickly and have a lifespan of 8 months.
Topics covered include clinical features of Cockayne and related syndromes, the molecular basis and molecular diagnosis of CS transcription-coupled repair, CS Group B protein and chromatin structure, cell signaling, cell cycle defects and apoptosis in CS, and overlap with xeroderma pigmentosum and other progeroid
DeBarsy syndrome is a rare progeroid
syndrome (see explanation of "progeroid
," below) associated with characteristic ocular, facial, skeletal, dermatologic, and neurologic abnormalities.
of the University of Washington and other investigators are exploring the mechanisms involved in DNA repair in WS and similar disorders, collectively known as progeroid
Patients with the autosomal recessive progeroid
variant of Ehlers-Danlos syndrome have mutations in the B4GALT7 gene.
That is to say, progeroid
syndromes have a genetic basis fundamentally different from the simple monogenic diseases afflicting mostly younger people.
Professor Garg and his team now believe Velasquez may have a form of Neonatal Progeroid
Syndrome (NPS) which causes accelerated ageing, fat loss from the face and body, and tissue degeneration.
Abhimanyu Garg, MD, is Chief of the Division of Nutrition and Metabolic Diseases at UT Southwestern Medical Center, and a leading expert on neonatal progeroid
syndrome (NPS), a debilitating disease in which children appear to age quickly and cannot store enough fat to stay healthy.
syndrome in mice is caused by defects in the A-type lamins.