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.
Two US House of Representatives committees yesterday condemned China’s attempt to orchestrate a crash involving Vice President Hsiao Bi-khim’s (蕭美琴) car when she visited the Czech Republic last year as vice president-elect. Czech local media in March last year reported that a Chinese diplomat had run a red light while following Hsiao’s car from the airport, and Czech intelligence last week told local media that Chinese diplomats and agents had also planned to stage a demonstrative car collision. Hsiao on Saturday shared a Reuters news report on the incident through her account on social media platform X and wrote: “I
‘BUILDING PARTNERSHIPS’: The US military’s aim is to continue to make any potential Chinese invasion more difficult than it already is, US General Ronald Clark said The likelihood of China invading Taiwan without contest is “very, very small” because the Taiwan Strait is under constant surveillance by multiple countries, a US general has said. General Ronald Clark, commanding officer of US Army Pacific (USARPAC), the US Army’s largest service component command, made the remarks during a dialogue hosted on Friday by Washington-based think tank the Center for Strategic and International Studies. Asked by the event host what the Chinese military has learned from its US counterpart over the years, Clark said that the first lesson is that the skill and will of US service members are “unmatched.” The second
STANDING TOGETHER: Amid China’s increasingly aggressive activities, nations must join forces in detecting and dealing with incursions, a Taiwanese official said Two senior Philippine officials and one former official yesterday attended the Taiwan International Ocean Forum in Taipei, the first high-level visit since the Philippines in April lifted a ban on such travel to Taiwan. The Ocean Affairs Council hosted the two-day event at the National Taiwan University Hospital International Convention Center. Philippine Navy spokesman Rear Admiral Roy Vincent Trinidad, Coast Guard spokesman Grand Commodore Jay Tarriela and former Philippine Presidential Communications Office assistant secretary Michel del Rosario participated in the forum. More than 100 officials, experts and entrepreneurs from 15 nations participated in the forum, which included discussions on countering China’s hybrid warfare
MORE DEMOCRACY: The only solution to Taiwan’s current democratic issues involves more democracy, including Constitutional Court rulings and citizens exercising their civil rights , Lai said The People’s Republic of China (PRC) is not the “motherland” of the Republic of China (ROC) and has never owned Taiwan, President William Lai (賴清德) said yesterday. The speech was the third in a series of 10 that Lai is scheduled to deliver across Taiwan. Taiwan is facing external threats from China, Lai said at a Lions Clubs International banquet in Hsinchu. For example, on June 21 the army detected 12 Chinese aircraft, eight of which entered Taiwanese waters, as well as six Chinese warships that remained in the waters around Taiwan, he said. Beyond military and political intimidation, Taiwan
RSS