Serotonin transporter role in identifying similarities between SIDS and idiopathic ALTE.

نویسندگان

  • Laura Filonzi
  • Cinzia Magnani
  • Luana Nosetti
  • Luigi Nespoli
  • Camilla Borghi
  • Marina Vaghi
  • Francesco Nonnis Marzano
چکیده

OBJECTIVE Considering previous genetic studies on sudden infant death syndrome (SIDS) and the role of L/L serotonin transporter (5HTT) genotype and correlated genes monoamine oxidase A (MAOA) and dopamine transporter (DAT) in unexpected death, an investigation was carried out verifying their involvement in apparent life-threatening events (ALTE and idiopathic form [IALTE]), also assessing common molecular basis with SIDS. METHODS Differential diagnoses in 76 ALTE infants, distinguishing ALTE from IALTE was elaborated by using clinical-diagnostic data. Genotypes/allelic frequencies of DAT, MAOA, and 5HTT were determined in ALTE and IALTE infants and compared with data obtained from 20 SIDS and 150 controls. RESULTS No association was found between DAT polymorphisms and ALTE/IALTE groups either at the genotype or allelic level (P range .11-.94). MAOA genotypes and allele data comparison between ALTE and controls was not significant; IALTE data showed a tendency for genotypes (P = .09) and were statistically significant for alleles (P = .036); however, MAOA significance disappeared once the Bonferroni correction was applied. 5HTT polymorphisms in IALTE remarked the role of L/L genotype (P < .00001) and L (P < .00001), as previously demonstrated in SIDS. CONCLUSIONS Considering correspondence between 5HTT and MAOA in IALTE and SIDS, we hypothesize that the 2 syndromes are different expressions of a common ethiopathogenesis. In particular, genetic data suggest SIDS events could derive from IALTE episodes occurred during sleep, and therefore out of parental control. Despite its functional role, results highlight the usefulness of 5HTT as a valuable tracer of SIDS risk in IALTE infants. Owing to the small sample size, the results are to be considered preliminary and should be reevaluated in an independent sample.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Epidemiology of apparent life threatening events.

AIMS To investigate the epidemiology and risk factors of apparent life threatening events (ALTE). METHODS A prospective study enrolled all live-born infants in the Tyrol (1993-2001). Information on pregnancy, sociodemographic characteristics, child care practices, and infant's behaviour in the first four to six weeks of life was collected with a standardised questionnaire, and was available f...

متن کامل

Review of Metabolism, Transport and Role of Serotonin in the Body and the Relation between Serotonin and Diseases

Serotonin (5-hydroxytriptamine), one of the most important neurotransmitters, is synthesized from amino acid L-tryptophan in some neurons located in the central nervous system and intestine enterochromaffin cells . The role of this neurotransmitter is important and involves control of sexual behaviors, morality, sleep, pain, appetite, aggression, cardiovascular function and regulation of gut fu...

متن کامل

Association of STin2 VNTR Polymorphism in the SLC6A4 Gene with Increased Risk of MS Disease

Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS) that is characterized by inflammation, demyelination and axonal injury. Although the etiology of MS disease is still unknown, many studies suggest that immune system dysfunction plays an important role in the pathogenesis of this disease. The serotonin serves as a mediator between CNS and the immune sys...

متن کامل

No association of serotonin transporter gene variation with sudden infant death syndrome (SIDS) in Caucasians.

Genetic studies on SIDS have been motivated by clinical, epidemiological, and/or neuropathological observations made of SIDS victims. One of the candidate genes is the serotonin transporter (5-HTT) gene, based on decreased serotonergic receptor binding observed in the brain-stems of SIDS victims. Two polymorphisms in the regulatory region of the 5-HTT gene differentially modulate gene expressio...

متن کامل

High serum serotonin in sudden infant death syndrome.

Sudden infant death syndrome (SIDS), the leading cause of postneonatal infant mortality, likely comprises heterogeneous disorders with the common phenotype of sudden death without explanation upon postmortem investigation. Previously, we reported that ∼40% of SIDS deaths are associated with abnormalities in serotonin (5-hydroxytryptamine, 5-HT) in regions of the brainstem critical in homeostati...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Pediatrics

دوره 130 1  شماره 

صفحات  -

تاریخ انتشار 2012