Researchers discover a new cause for the cerebral cavernous malformation
Laying foundation for non-invasive diagnosis and therapy development


Date:
June 8, 2021
Source:
Hong Kong University of Science and Technology
Summary:
Researchers have recently uncovered a new gene mutation responsible
for the non-familial patients of cerebral cavernous malformation
(CCM) -- a brain vascular disorder which inflicted about 10-30
million people in the world.



FULL STORY ========================================================================== Researchers from the Hong Kong University of Science and Technology
(HKUST) and Beijing Tiantan Hospital have recently uncovered a new gene mutation responsible for the non-familial patients of cerebral cavernous malformation (CCM) -- a brain vascular disorder which inflicted about
10~30 million people in the world.


========================================================================== While the mutation of three genes: namely CCM1, CCM2, and CCM3, were
known to be a cause of CCM -- they mostly targeted patients who has
family history in this disorder -- which only account for about 20 per
cent of the total inflicted population. The cause for the remaining 80
per cent non-familial cases, however, were not known.

Now, using next-generation sequencing and computational approach, a
research team led by Prof. WANG Jiguang, Assistant Professor from HKUST's Division of Life Science and Department of Chemical and Biological
Engineering, in collaboration with Prof. CAO Yong from the Beijing
Tiantan Hospital, analyzed the genomic data of 113 CCM patients and
identified another mutation called MAP3K3 c.1323C>G, which is found to be responsible for almost all the tested cases who developed popcorn-like
lesions in their brain arteries -- the most common one among the four
types of CCM lesions (type II CCM).

At present, magnetic resonance imaging (MRI) is a commonly used
non-intrusive means that doctors can base upon for diagnosis and
treatment. However, the MRI images can only tell the size and type
of the lesions, but not the gene responsible for the problem -- which
can only be ascertained by surgery and laboratory tests. Now, the HKUST research team designed a computational method that could help assess the probability of connection between the lesion shown in the MRI image to
the genetic mutation MAP3K3 c.1323C>G. So CCM patients with this gene
mutation may be able to receive more targeted treatment without having
to undergo surgery -- which could bear serious risks including cerebral hemorrhage or new focal neurological deficits.

Prof. Wang from HKUST said, "Our research opens a new direction to
the genetic landscape of CCM and uncovers clues to the correlation
between MAP3K3 c.1323C>G gene mutation and type II CCM. The design of
the computational method, or decision-tree model takes us a step closer
to non-invasive diagnosis of CCM cause, and we hope the discovery could
help pave way for candidate drug target and therapy development, bringing benefits to patients in the near future." The findings were recently
published in The American Journal of Human Genetics.

========================================================================== Story Source: Materials provided by Hong_Kong_University_of_Science_and_Technology. Note: Content may be
edited for style and length.


========================================================================== Journal Reference:
1. Jiancong Weng, Yingxi Yang, Dong Song, Ran Huo, Hao Li, Yiyun Chen,
Yoonhee Nam, Qiuxia Zhou, Yuming Jiao, Weilun Fu, Zihan Yan,
Jie Wang, Hongyuan Xu, Lin Di, Jie Li, Shuo Wang, Jizong Zhao,
Jiguang Wang, Yong Cao. Somatic MAP3K3 mutation defines a subclass
of cerebral cavernous malformation. The American Journal of Human
Genetics, 2021; 108 (5): 942 DOI: 10.1016/j.ajhg.2021.04.005 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2021/06/210608083955.htm

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