A*STAR Release: How Does A Nose Form? Scientists In Singapore Discover The Nose Gene
Different mutations in this gene are also linked to a common type of muscular dystrophy.
Singapore — Scientists in Singapore have identified the gene which allows the nose to form when the baby develops in the mother’s womb. When this gene, SMCHD1, is mutated, the nose does not form, resulting in a condition known as congenital arhinia. This discovery brings new insights on how the nose is formed during the development of the embryo (embryogenesis) and sheds new light on how variation in nose shape and size can evolve between individuals and among animal species.
This SMCHD1 gene has also previously been linked with a more common muscular disease known as facioscapulohumeral muscular dystrophy type 2 (FSHD2). This adult onset muscle-weakening disorder affects the face (facio), shoulders (scapula) and upper arms (humeral), and can spread to other parts of the body over time. A better understanding of SMCHD1 will provide valuable insights for the development of novel therapy for this disorder.
About arhinia
Children born with arhinia, or the absence of a nose, have breathing and feeding difficulties and in some cases, eye abnormalities. Picture credit: A*STAR Institute of Medical Biology.
A rare genetic condition, arhinia was first reported in 1981 and its genetic basis has remained elusive till now. Fewer than 100 cases have been reported in medical literature to date.
The absence of a nose has a significant impact on a child’s early life, as babies naturally breathe through their noses when breastfeeding. This condition requires them to undergo a tracheotomy to circumvent the absence of nasal airways. Babies born without a nose may also have eye defects. Children without a nose will never experience the sense of smell, a condition known as anosmia. Some individuals also have reproductive defects which first manifest as delayed puberty, or hypogonadotropic hypogonadism.
Discovering the mutation of the nose gene
The team found that a single gene, SMCHD1, was mutated in all 14 of the unrelated cases that were studied. SMCHD1 is an epigenetic regulator, an important factor that switches on or off important genes depending on the cellular context.
Prior to this study, the gene has never been associated with craniofacial development in humans but has previously been associated with causing a completely unrelated muscular disorder, FSHD)type 2.
Professor Bruno Reversade, Research Director at Institute of Medical Biology (IMB) and Institute of Molecular and Cell Biology (IMCB) and co-corresponding author said, “This discovery is a fascinating example of how rare conditions can provide unsuspected insights into common diseases. We will strive to translate these findings into potential therapeutics for FSHD. ”
Professor Birgitte Lane, Executive Director of IMB, said, “This unexpected and totally new finding has come from an excellent example of cross-institutional and international collaboration. The combined strength of several genetic and medical experts has led to a great piece of world-class scientific research. We all benefit from these very creative partnerships and we look forward to more of them in the future.”
Professor Hong Wanjin, Executive Director of IMCB, said, “This finding is a critical inroad to understanding the development and evolution of the nose, and will shed new insight for many others in the scientific and clinical community.”
The discovery, published in Nature Genetics on 9 January 2017, was led by researchers from A*STAR’s Institute of Medical Biology, Institute of Molecular and Cell Biology and Genome Institute of Singapore in collaboration with a multinational team of researchers and clinicians from Institut Imagine (Paris, France), University Medical Center Göttingen (Göttingen, Germany) and The Walter and Eliza Hall Institute of Medical Research (Melbourne, Australia).
Singapore — Scientists in Singapore have identified the gene which allows the nose to form when the baby develops in the mother’s womb. When this gene, SMCHD1, is mutated, the nose does not form, resulting in a condition known as congenital arhinia. This discovery brings new insights on how the nose is formed during the development of the embryo (embryogenesis) and sheds new light on how variation in nose shape and size can evolve between individuals and among animal species.
This SMCHD1 gene has also previously been linked with a more common muscular disease known as facioscapulohumeral muscular dystrophy type 2 (FSHD2). This adult onset muscle-weakening disorder affects the face (facio), shoulders (scapula) and upper arms (humeral), and can spread to other parts of the body over time. A better understanding of SMCHD1 will provide valuable insights for the development of novel therapy for this disorder.
About arhinia
Children born with arhinia, or the absence of a nose, have breathing and feeding difficulties and in some cases, eye abnormalities. Picture credit: A*STAR Institute of Medical Biology.
A rare genetic condition, arhinia was first reported in 1981 and its genetic basis has remained elusive till now. Fewer than 100 cases have been reported in medical literature to date.
The absence of a nose has a significant impact on a child’s early life, as babies naturally breathe through their noses when breastfeeding. This condition requires them to undergo a tracheotomy to circumvent the absence of nasal airways. Babies born without a nose may also have eye defects. Children without a nose will never experience the sense of smell, a condition known as anosmia. Some individuals also have reproductive defects which first manifest as delayed puberty, or hypogonadotropic hypogonadism.
Discovering the mutation of the nose gene
The team found that a single gene, SMCHD1, was mutated in all 14 of the unrelated cases that were studied. SMCHD1 is an epigenetic regulator, an important factor that switches on or off important genes depending on the cellular context.
Prior to this study, the gene has never been associated with craniofacial development in humans but has previously been associated with causing a completely unrelated muscular disorder, FSHD)type 2.
Professor Bruno Reversade, Research Director at Institute of Medical Biology (IMB) and Institute of Molecular and Cell Biology (IMCB) and co-corresponding author said, “This discovery is a fascinating example of how rare conditions can provide unsuspected insights into common diseases. We will strive to translate these findings into potential therapeutics for FSHD. ”
Professor Birgitte Lane, Executive Director of IMB, said, “This unexpected and totally new finding has come from an excellent example of cross-institutional and international collaboration. The combined strength of several genetic and medical experts has led to a great piece of world-class scientific research. We all benefit from these very creative partnerships and we look forward to more of them in the future.”
Professor Hong Wanjin, Executive Director of IMCB, said, “This finding is a critical inroad to understanding the development and evolution of the nose, and will shed new insight for many others in the scientific and clinical community.”
The discovery, published in Nature Genetics on 9 January 2017, was led by researchers from A*STAR’s Institute of Medical Biology, Institute of Molecular and Cell Biology and Genome Institute of Singapore in collaboration with a multinational team of researchers and clinicians from Institut Imagine (Paris, France), University Medical Center Göttingen (Göttingen, Germany) and The Walter and Eliza Hall Institute of Medical Research (Melbourne, Australia).