Progeroid syndromes

Werner syndrome is inherited in an autosomal recessive manner, which means both parents must contribute a dysfunctional allele for an individual to develop the disease.

An eight-year-old girl from Guatemala with xeroderma pigmentosum. Children with XP are often colloquially referred to as Children of the Night.[49]

Lamin is required at the inner nuclear membrane to ensure the nucleus keeps its shape. Mutations in LMNA causes dysfunctional lamin, and the nucleus can no longer keeps its shape. This leads to mislocalisation of heterochromatin, which normally lie in close proximity, or with, the nuclear matrix, nuclear blebbing and misregulation of gene expression.

Girl with HGPS (left). This condition is caused by dysfunctional lamin which is unable to maintain the nuclear shape (normal at top, abnormal at bottom)

Progeroid syndromes (PS) are a group of rare genetic disorders that mimic physiological aging, making affected individuals appear to be older than they are. The term progeroid syndrome does not necessarily imply progeria (Hutchinson-Gilford progeria syndrome), which is a specific type of progeroid syndrome.

单词	Progeroid syndrome
释义	Progeroid syndrome 英语百科 Progeroid syndromes Progeroid syndromes (PS) are a group of rare genetic disorders that mimic physiological aging, making affected individuals appear to be older than they are. The term progeroid syndrome does not necessarily imply progeria (Hutchinson-Gilford progeria syndrome), which is a specific type of progeroid syndrome.
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