Researchers have found that a deficiency in the primary cilium on cells could be the key to understanding progeria, a rare progressive genetic disorder that causes children to age rapidly and die young.
The research was featured on Monday last week in EMBO Reports, a peer-reviewed journal published by the European Molecular Biology Organization, under the title “Lamin A-mediated nuclear lamina integrity is required for proper ciliogenesis.”
People with progeria, also known as Hutchinson-Gilford progeria syndrome, develop symptoms in infancy and have an average life expectancy of 13 years.
Photo courtesy of the Ministry of Science and Technology
Clinically observable traits include severe growth retardation, loss of subcutaneous fat, wrinkled skin, hair loss, osteoporosis, joint stiffness and cardiovascular disease.
Despite being medically described in 1886, progeria was not attributed to mutations of the LMNA gene until 2003. The gene provides instructions to make several slightly different proteins called lamins.
The two major proteins produced from this gene — lamin A and lamin C — are made in most cells.
When the LMNA gene mutates, it causes abnormal wrinkles on the nucleus, which can deform and hollow out, Chen Hong-chen (陳鴻震), professor of molecular biology at National Yang-Ming University and leader of the research team, told a news conference at the Ministry of Science and Technology yesterday.
For the first time, the team found a link between the abnormality in the nucleus and the primary cilium on the surface of the cell, after observing that dermal fibroblasts — which generate connective tissue — had fewer and shorter primary cilia in people with progeria.
As the primary cilium functions like a cellular antenna that detects changes in the extracellular environments and transduces signals to the cell interior to respond to those changes, it is possible that the malfunction of primary cilia could cause progeria, Chen said.
The team further examined LMNA-null laboratory mice — which have had a gene knocked out by the targeted integration of a defective gene — and proved that primary cilia were defective in many organs of prematurely aged, lamin A-deficient mice, he said.
The team also found that mice with LMNA deficiency had a lifespan of four to five months, much shorter than normal mice.
It is possible to fix the deficiency with genetic engineering, Chen said.
“This discovery not only provides new insight into the pathogenesis of progeria syndrome, but also sheds light on new therapeutic strategies for related diseases,” the ministry said in a statement.
The study was sponsored by the ministry and mainly conducted by postdoctoral fellow Fan Jia-rong (范嘉榕), who is the first author of the paper; associate researcher Chi Ya-hui (紀雅惠) of the National Health Research Institutes; and You Li-ru (游麗如) and Wang Won-jing (王琬菁) of the university’s Institute of Biochemistry and Molecular Biology.
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